Mathieu Milh
Reproducibility track record
1
assessed papers
96/100
mean reproducibility
1
reproduced (C1–C2)
0
flagged
0
total citations
flag rate:
0%
(0/1)
The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.
Authorship role
first author: 0
last author: 0
Topics
—
Funders
—
Frequent co-authors
Sabine Endele 1Lionel Van Maldergem 1Bernhard Zabel 1Bernt Popp 1Ceyhun Tamer 1Dagmar Wieczorek 1Kerstin Kutsche 1Holger Tönnies 1Fanny Kortüm 1Sarah von Spiczak 1
Institutions
Friedrich-Alexander-Universität Erlangen-Nürnberg 1Universität Hamburg 1University Medical Center Hamburg-Eppendorf 1Technische Universität Darmstadt 1University of Lübeck 1Inserm 1
Geography (author institutions)
DE 1FR 1BE 1
Co-author network
Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.
How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.
Assessed papers (1)
Complete publication record (224)
Request a reproduction →1 assessed by us (1 reproduced) · 223 not yet assessed — every PubMed paper on record, linked below.
-
Early and transient increase in cortical pyramidal cell excitability and delayed alteration of evoked synaptic transmission and t-SNARE proteins content in the hippocampus and neocortex of neonatal and juvenile Stxbp1 heterozygous mice ↗Frontiers in Cellular Neuroscience · 2026not yet assessed
-
Data quality biases normative models derived from fetal brain MRI ↗Imaging Neuroscience · 2026not yet assessed
-
Dataset: Data quality biases normative models derived from fetal brain MRI ↗Zenodo (CERN European Organization for Nuclear Research) · 2026not yet assessed
-
Dataset: Data quality biases normative models derived from fetal brain MRI ↗Zenodo (CERN European Organization for Nuclear Research) · 2026not yet assessed
-
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies ↗Neurology · 2026 · PMID 42190144not yet assessed
-
Stereoelectroencephalographic exploration and surgical outcome in Lennox–Gastaut syndrome ↗Epilepsia · 2025 · PMID 39871521not yet assessed
-
Burst of gyrification in the human brain after birth ↗Communications Biology · 2025 · PMID 40419689not yet assessed
-
Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals ↗Pediatric Neurology · 2025 · PMID 40614697not yet assessed
-
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis ↗European Journal of Neurology · 2025 · PMID 40778729not yet assessed
-
Early motor outcomes in infants with complex congenital heart disease: the predictive role of NSE and S100B ↗Pediatric Research · 2025 · PMID 40993357not yet assessed
-
Long‐term safety and efficacy of adjunctive perampanel in pediatric patients (ages 4 to <12 years) with inadequately controlled focal‐onset seizures or generalized tonic–clonic seizures ↗Epilepsia · 2025 · PMID 39931934not yet assessed
-
Amitriptyline use in individuals with <i>KCNQ2/3</i> gain‐of‐function variants: A retrospective cohort study ↗Epilepsia · 2025 · PMID 39962862not yet assessed
-
Long‐term treatment with carbamazepine restores cognitive abilities in a mouse model of <i>KCNQ2</i> developmental and epileptic encephalopathy ↗Epilepsia Open · 2025 · PMID 40632471not yet assessed
-
Broadening the phenotype associated with pathogenic variants in the <i>FGF12</i> gene: From developmental and epileptic encephalopathy to drug‐responsive epilepsy with favorable cognitive outcome ↗Epilepsia · 2025 · PMID 40488543not yet assessed
-
<scp><i>GABRA2</i></scp>‐related encephalopathy: Identification of two phenotypes with distinctive electroclinical features ↗Epilepsia · 2025 · PMID 40528577not yet assessed
-
CINeMA: Conditional Implicit Neural Multi-Modal Atlas for a Spatio-Temporal Representation of the Perinatal Brain ↗IEEE Transactions on Medical Imaging · 2025 · PMID 40902057not yet assessed
-
Mitochondrial Leigh syndrome: the state of the art ↗Archives de Pédiatrie · 2025 · PMID 41193338not yet assessed
-
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies ↗medRxiv · 2025 · PMID 40950445not yet assessed
-
Early and transient increase in cortical pyramidal cell excitability and delayed alteration of evoked synaptic transmission and t-SNARE proteins content in the hippocampus and neocortex of neonatal and juvenile <i>STXBP1</i> heterozygous mice ↗bioRxiv (Cold Spring Harbor Laboratory) · 2025 · PMID 42232836not yet assessed
-
Initiative to federate research contributors: The Polyhandicap REsearch NEtwork PolyRENE ↗Journal of Epidemiology and Population Health · 2025 · PMID 40157322not yet assessed
-
Long‐term outcomes of a cohort of patients with pharmacoresistant neonatal epilepsy and negative brain <scp>MRI</scp> ↗Epilepsia Open · 2025 · PMID 40884527not yet assessed
-
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies ↗Brain · 2025 · PMID 40905141not yet assessed
-
Fulminant idiopathic intracranial hypertension mimicking Chiari I malformation in a pediatric patient: diagnostic value of MRI and promising outcomes with venous sinus stenting ↗Child s Nervous System · 2025 · PMID 40970992not yet assessed
-
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies ↗RWTH Publications (RWTH Aachen) · 2025not yet assessed
-
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants ↗EBioMedicine · 2024 · PMID 38996765not yet assessed
-
Understanding paralogous epilepsy–associated GABA <sub>A</sub> receptor variants: Clinical implications, mechanisms, and potential pitfalls ↗Proceedings of the National Academy of Sciences · 2024 · PMID 39642202not yet assessed
-
Effectiveness of sodium channel blockers in treating neonatal seizures due to arterial ischemic stroke ↗Epilepsia · 2024 · PMID 39579039not yet assessed
-
Phosphatidylserine enriched with polyunsaturated <i>n</i>‐3 fatty acid supplementation for <scp>attention‐deficit</scp> hyperactivity disorder in children and adolescents with epilepsy: A randomized placebo‐controlled trial ↗Epilepsia Open · 2024 · PMID 38173190not yet assessed
-
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder ↗Genetics in Medicine · 2024 · PMID 39315527not yet assessed
-
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders ↗Genetics in Medicine · 2024 · PMID 39275948not yet assessed
-
Pathways to epilepsy surgery in children with tuberous sclerosis complex-associated epilepsy ↗Revue Neurologique · 2024 · PMID 38866657not yet assessed
-
Normative models combining fetal and postnatal MRI data to characterize neurodevelopmental trajectories during the transition from in- to ex-utero ↗bioRxiv (Cold Spring Harbor Laboratory) · 2024not yet assessed
-
<scp>GluK2</scp> Is a Target for Gene Therapy in Drug‐Resistant Temporal Lobe Epilepsy ↗Annals of Neurology · 2023 · PMID 37341588not yet assessed
-
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects ↗Nature Communications · 2023 · PMID 37296101not yet assessed
-
Efficacy and tolerance of cannabidiol in the treatment of epilepsy in patients with Rett syndrome ↗Epilepsia Open · 2023 · PMID 37485779not yet assessed
-
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype ↗Prenatal Diagnosis · 2023 · PMID 37173814not yet assessed
-
Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome ↗European Journal of Paediatric Neurology · 2023 · PMID 38041897not yet assessed
-
Parents' experiences of parenting a child with profound intellectual and multiple disabilities in France: A qualitative study ↗Health Expectations · 2023 · PMID 37932892not yet assessed
-
Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> Encephalopathy ↗Neurology · 2023 · PMID 36599696not yet assessed
-
Further characterisation of <i>ARX</i>-related disorders in females due to inherited or de novo variants ↗Journal of Medical Genetics · 2023 · PMID 37879892not yet assessed
-
Loss of NDST1 <i>N</i>-sulfotransferase activity is associated with autosomal recessive intellectual disability ↗Human Molecular Genetics · 2023 · PMID 38129107not yet assessed
-
Familial KCNQ2 mutation: a psychiatric perspective ↗Psychiatric Genetics · 2023 · PMID 38108335not yet assessed
-
Impact of cardiac surgical timing on the neurodevelopmental outcomes of newborns with Complex congenital heart disease (CHD) ↗Frontiers in Pediatrics · 2023 · PMID 37033180not yet assessed
-
Before the first seizure: The developmental imprint of infant epilepsy on neurodevelopment ↗Revue Neurologique · 2023 · PMID 36907712not yet assessed
-
Effect of Oxygen Administration on Paroxysmal Motor Events in Alternating Hemiplegia of Childhood ↗Movement Disorders · 2023 · PMID 37466145not yet assessed
-
Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant ↗Prenatal Diagnosis · 2023 · PMID 38148030not yet assessed
-
N°243 – Efficacy and tolerance of cannabidiol in the epilepsy treatment in patients with Rett syndrome: Experience in a single-center cohort ↗Clinical Neurophysiology · 2023not yet assessed
-
GluK2 is a target for gene therapy in drug-resistant Temporal Lobe Epilepsy ↗bioRxiv (Cold Spring Harbor Laboratory) · 2023not yet assessed
-
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects ↗Nature Communications · 2023 · PMID 37322043not yet assessed
-
Travail parental et trajectoires de prise en soins liees au Polyhandicap : Premiers résultats d’entretiens qualitatifs menés auprès des parents.HAL AMU · 2023not yet assessed
-
POLYhandicap: the French REsearch NetworkHAL AMU · 2023not yet assessed
-
Situation de polyhandicap et conséquences psychosociales : entretiens auprès de parentsHAL (Le Centre pour la Communication Scientifique Directe) · 2023not yet assessed
-
Molecular and clinical descriptions of patients with <scp>GABA<sub>A</sub></scp> receptor gene variants (<i><scp>GABRA1</scp>, <scp>GABRB2</scp>, <scp>GABRB3</scp>, <scp>GABRG2</scp></i>): A cohort study, review of literature, and genotype–phenotype correlation ↗Epilepsia · 2022 · PMID 35718920not yet assessed
-
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism ↗EBioMedicine · 2022 · PMID 35780567not yet assessed
-
Time‐limited alterations in cortical activity of a knock‐in mouse model of <i>KCNQ2</i> ‐related developmental and epileptic encephalopathy ↗The Journal of Physiology · 2022 · PMID 35389519not yet assessed
-
Overview of therapeutic options for epilepsy ↗Archives de Pédiatrie · 2022 · PMID 36585066not yet assessed
-
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies ↗European Journal of Medical Genetics · 2022 · PMID 35091117not yet assessed
-
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care ↗International Journal of Molecular Sciences · 2022 · PMID 35955641not yet assessed
-
Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care ↗medRxiv · 2022not yet assessed
-
Apport de la génétique dans la prise en charge des épilepsies de l’enfant ↗Perfectionnement en Pédiatrie · 2022not yet assessed
-
Objective evaluation of clinical actionnability for genes involved in myopathies: 51 promising genesHAL (Le Centre pour la Communication Scientifique Directe) · 2022not yet assessed
-
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA) ↗Orphanet Journal of Rare Diseases · 2021 · PMID 34229737not yet assessed
-
Consensus statements on the information to deliver after a febrile seizure ↗European Journal of Pediatrics · 2021 · PMID 33866403not yet assessed
-
Intellectual outcome from 1 to 5 years after epilepsy surgery in 81 children and adolescents: A longitudinal study ↗Seizure · 2021 · PMID 34298457not yet assessed
-
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder ↗Brain Sciences · 2021 · PMID 34356165not yet assessed
-
Fluoxetine as adjunctive therapy in pediatric patients with refractory epilepsy: A retrospective analysis ↗Epilepsy Research · 2021 · PMID 34653782not yet assessed
-
Clinical characteristics of COVID-19 infection in polyhandicapped persons in France ↗Archives de Pédiatrie · 2021 · PMID 33994267not yet assessed
-
Open‐label study to investigate the safety and efficacy of adjunctive perampanel in pediatric patients (4 to <12 years) with inadequately controlled focal seizures or generalized tonic‐clonic seizures ↗Epilepsia · 2020 · PMID 31912493not yet assessed
-
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation ↗Genetics in Medicine · 2020 · PMID 32565546not yet assessed
-
Relationship between PET metabolism and SEEG epileptogenicity in focal lesional epilepsy ↗European Journal of Nuclear Medicine and Molecular Imaging · 2020 · PMID 32430581not yet assessed
-
A knock‐in mouse model for <i>KCNQ2</i>‐related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment ↗Epilepsia · 2020 · PMID 32239694not yet assessed
-
Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study ↗Frontiers in Neurology · 2020 · PMID 32903409not yet assessed
-
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project ↗Journal of Neurodevelopmental Disorders · 2020 · PMID 32873244not yet assessed
-
Movement disorders in patients with alternating hemiplegia ↗Neurology · 2020 · PMID 32123049not yet assessed
-
Defining the phenotype of <i>FHF1</i> developmental and epileptic encephalopathy ↗Epilepsia · 2020 · PMID 32645220not yet assessed
-
Pediatric emergency room visits for neurological conditions: Description and use of pediatric neurologist advice ↗Archives de Pédiatrie · 2020 · PMID 33169688not yet assessed
-
The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review ↗Archives de Pédiatrie · 2020 · PMID 33342683not yet assessed
-
Real-life use of videos in pediatric epilepsy consultations ↗Epilepsy & Behavior · 2020 · PMID 33309428not yet assessed
-
Time-limited alterations in cortical activity of a Knock-in mice model of <i>KCNQ2-</i> related Developmental and Epileptic Encephalopathy ↗bioRxiv (Cold Spring Harbor Laboratory) · 2020not yet assessed
-
Epilepsy with migrating focal seizures ↗Neurology Genetics · 2019 · PMID 31872048not yet assessed
-
Clinical study of 19 patients with <i><scp>SCN</scp>8A</i>‐related epilepsy: Two modes of onset regarding <scp>EEG</scp> and seizures ↗Epilepsia · 2019 · PMID 31026061not yet assessed
-
Can histologically normal epileptogenic zone share common electrophysiological phenotypes with focal cortical dysplasia? SEEG-based study in MRI-negative epileptic patients ↗Journal of Neurology · 2019 · PMID 31055634not yet assessed
-
Screening for depression in youth with epilepsy: Psychometric analysis of NDDI-E-Y and NDDI-E in a French population ↗Epilepsy & Behavior · 2019 · PMID 31299528not yet assessed
-
Genetics of neonatal onset epilepsies: An overview ↗Revue Neurologique · 2019 · PMID 31097300not yet assessed
-
Épilepsie et polyhandicap chez l’enfant : mise au point de la Commission « handicap » de la Société française de neurologie pédiatrique ↗Perfectionnement en Pédiatrie · 2019not yet assessed
-
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature ↗Genetics in Medicine · 2019not yet assessed
-
Résultats et complications de l’hémisphérotomie verticale para sagittale chez le jeune enfant. À propos de 11 cas ↗Neurochirurgie · 2019not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
The repertoire of seizure onset patterns in human focal epilepsies: Determinants and prognostic values ↗Epilepsia · 2018 · PMID 30426477not yet assessed
-
Interictal stereotactic-EEG functional connectivity in refractory focal epilepsies ↗Brain · 2018 · PMID 30107499not yet assessed
-
Everolimus for treatment-refractory seizures in TSC ↗Neurology Clinical Practice · 2018 · PMID 30564495not yet assessed
-
Delineating <i>FOXG1</i> syndrome ↗Neurology Genetics · 2018 · PMID 30533527not yet assessed
-
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature ↗Genetics in Medicine · 2018 · PMID 30356099not yet assessed
-
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients ↗Genetics in Medicine · 2018 · PMID 30206421not yet assessed
-
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies ↗Genetics in Medicine · 2018 · PMID 29997391not yet assessed
-
Everolimus dosing recommendations for <scp>tuberous sclerosis complex–</scp>associated refractory seizures ↗Epilepsia · 2018 · PMID 29727013not yet assessed
-
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst ↗Human Mutation · 2018 · PMID 29663568not yet assessed
-
The role of stereoelectroencephalography (SEEG) in reevaluation of epilepsy surgery failures ↗Epilepsy & Behavior · 2018 · PMID 29526579not yet assessed
-
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations ↗Brain and Development · 2018 · PMID 29861155not yet assessed
-
Tailored suprainsular partial hemispherotomy: a new functional disconnection technique for stroke-induced refractory epilepsy ↗Journal of Neurosurgery Pediatrics · 2018 · PMID 30141751not yet assessed
-
Diadenosine-Polyphosphate Analogue AppCH2ppA Suppresses Seizures by Enhancing Adenosine Signaling in the Cortex ↗Cerebral Cortex · 2018 · PMID 30295710not yet assessed
-
Screening for depression in youth with epilepsy: The NDDI‐E‐Y ↗Epilepsia · 2018 · PMID 30368787not yet assessed
-
Republication de : Évaluation d’un enfant après une crise fébrile : focus sur trois problèmes de pratique clinique ↗Journal Européen des Urgences et de Réanimation · 2018not yet assessed
-
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients ↗Genetics in Medicine · 2018 · PMID 30279470not yet assessed
-
Étude du fonctionnement adaptatif d’adultes présentant une déficience intellectuelle : rôles des apprentissages réalisés dans l’enfance, de l’âge et du quotient intellectuel ; étude préliminaire observationnelle de 16 adultes ↗Archives de Pédiatrie · 2018 · PMID 29551474not yet assessed
-
Diadenosine-Polyphosphate Analogue AppCH2ppA Suppresses Seizures by Enhancing Adenosine Signaling in the CortexHAL (Le Centre pour la Communication Scientifique Directe) · 2018not yet assessed
-
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders ↗Brain · 2017 · PMID 28379373not yet assessed
-
Early patterns of activity in the developing cortex: Focus on the sensorimotor system ↗Seminars in Cell and Developmental Biology · 2017 · PMID 28899717not yet assessed
-
A possible link between <i><scp>KCNQ</scp>2</i>‐ and <i><scp>STXBP</scp>1</i>‐related encephalopathies: <scp>STXBP</scp>1 reduces the inhibitory impact of syntaxin‐1A on M current ↗Epilepsia · 2017 · PMID 29067685not yet assessed
-
Évaluation d’un enfant après une crise fébrile : focus sur trois problèmes de pratique clinique ↗Archives de Pédiatrie · 2017 · PMID 28965695not yet assessed
-
Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration ↗European Journal of Paediatric Neurology · 2017 · PMID 28506426not yet assessed
-
<i>FOXC1</i> haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease ↗American Journal of Medical Genetics Part A · 2017 · PMID 28657660not yet assessed
-
Urinary retention associated with aripiprazole: Report of a new case and review of the literature ↗Therapies · 2017 · PMID 29146041not yet assessed
-
Anti-tumor necrosis factor alpha therapy, Adalimumab, in Rasmussen's encephalitis ↗European Journal of Paediatric Neurology · 2017not yet assessed
-
Whole exome sequencing in non progressive congenital ataxia consanguineous families: 3 genes lumping with early infantile epileptic encephalopathies ↗European Journal of Paediatric Neurology · 2017not yet assessed
-
RUFIPRAT: A retrospective study on the everyday clinical use of Rufinamide in children with refractory epilepsy ↗European Journal of Paediatric Neurology · 2017not yet assessed
-
Two new mutations in POLR1C gene cause hypomyelinating leukodystrophy ↗European Journal of Paediatric Neurology · 2017not yet assessed
-
Cognitive outcome after epilepsy surgery in 81 children with refractory epilepsy: Impact of postoperative seizure freedom rates and antiepileptic (AED) use ↗European Journal of Paediatric Neurology · 2017not yet assessed
-
Is SCN8A-related epilepsy recognizable ? Description of 15 cases, focusing on the mode of onset. ↗European Journal of Paediatric Neurology · 2017not yet assessed
-
Delineating the <i>GRIN1</i> phenotypic spectrum ↗Neurology · 2016 · PMID 27164704not yet assessed
-
<i>TBC1D24</i> genotype–phenotype correlation ↗Neurology · 2016 · PMID 27281533not yet assessed
-
Anti–tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study ↗Epilepsia · 2016 · PMID 27106864not yet assessed
-
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy ↗The American Journal of Human Genetics · 2016 · PMID 27889060not yet assessed
-
A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression‐burst enhances Kv7/M channel activity ↗Epilepsia · 2016 · PMID 27030113not yet assessed
-
Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France ↗Epilepsia · 2016 · PMID 27037674not yet assessed
-
Severe neonatal seizures: From molecular diagnosis to precision therapy? ↗Revue Neurologique · 2016 · PMID 26993565not yet assessed
-
<i>GRID2</i> mutations span from congenital to mild adult-onset cerebellar ataxia ↗Neurology · 2015 · PMID 25841024not yet assessed
-
Severe phenotypic spectrum of biallelic mutations in<i>PRRT2</i>gene ↗Journal of Neurology Neurosurgery & Psychiatry · 2015 · PMID 25595153not yet assessed
-
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels ↗Neurobiology of Disease · 2015 · PMID 26007637not yet assessed
-
Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases ↗Epilepsia · 2015 · PMID 26514728not yet assessed
-
Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations ↗American Journal of Medical Genetics Part A · 2015 · PMID 25959266not yet assessed
-
Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient ↗European Journal of Human Genetics · 2015 · PMID 26173968not yet assessed
-
Cerebral 18FluoroDeoxy-Glucose Positron Emission Tomography in paediatric anti N-methyl-d-aspartate receptor encephalitis: A case series ↗Brain and Development · 2015 · PMID 26542469not yet assessed
-
Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation ↗Brain and Development · 2015 · PMID 26686600not yet assessed
-
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability ↗Epilepsy Research · 2015 · PMID 25769375not yet assessed
-
Rachitisme carentiel compliquant une maladie de Chanarin-Dorfman ↗Archives de Pédiatrie · 2015 · PMID 25753274not yet assessed
-
CO-59 – Myasthénie auto-immune de l'Enfant: À propos d'une cohorte de 40 cas ↗Archives de Pédiatrie · 2015not yet assessed
-
Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life ↗The American Journal of Human Genetics · 2014 · PMID 24995870not yet assessed
-
Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model ↗Nature Communications · 2014 · PMID 25081057not yet assessed
-
Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome ↗Epilepsy & Behavior · 2014 · PMID 24412860not yet assessed
-
Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome ↗European Journal of Paediatric Neurology · 2014 · PMID 25549896not yet assessed
-
Cortical involvement in focal epilepsies with epileptic spasms ↗Epilepsy Research · 2014 · PMID 25212728not yet assessed
-
Intragenic rearrangements in X‐linked intellectual deficiency: Results of a‐CGH in a series of 54 patients and identification of <i>TRPC5</i> and <i>KLHL15</i> as potential XLID genes ↗American Journal of Medical Genetics Part A · 2014 · PMID 24817631not yet assessed
-
not yet assessed
-
Comment les pédiatres peuvent-ils participer à la prise en charge des enfants avec incapacités pour limiter le handicap ? ↗Archives de Pédiatrie · 2014not yet assessed
-
Caractéristiques des encéphalites à anti-N-Methyl-D-Aspartate récepteur (NMDAR) en population pédiatrique et apport de la tomographie par émission de positron au fluorodeoxyglucose (PET-FDG) ↗Revue Neurologique · 2014not yet assessed
-
Novel Compound Heterozygous Mutations in<i>TBC</i><i>1</i><i>D</i><i>24</i>Cause Familial Malignant Migrating Partial Seizures of Infancy ↗Human Mutation · 2013 · PMID 23526554not yet assessed
-
Novel<i>KCNQ2</i>and<i>KCNQ3</i>Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A ↗Human Mutation · 2013 · PMID 24375629not yet assessed
-
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 ↗Orphanet Journal of Rare Diseases · 2013 · PMID 23692823not yet assessed
-
Auditory Stimuli Mimicking Ambient Sounds Drive Temporal “Delta-Brushes” in Premature Infants ↗PLoS ONE · 2013 · PMID 24244408not yet assessed
-
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype? ↗European Journal of Medical Genetics · 2013 · PMID 24189369not yet assessed
-
Diagnosis and Outcome of <i>SCN4A</i>-Related Severe Neonatal Episodic Laryngospasm (SNEL): 2 New Cases ↗PEDIATRICS · 2013 · PMID 23958773not yet assessed
-
Brain maturation and epilepsy ↗Handbook of clinical neurology · 2013 · PMID 23424914not yet assessed
-
Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins ↗European Journal of Medical Genetics · 2013 · PMID 23454271not yet assessed
-
O9 – 2019 Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 ↗European Journal of Paediatric Neurology · 2013not yet assessed
-
Children often present with infantile spasms after herpetic encephalitis ↗Epilepsia · 2013 · PMID 23815601not yet assessed
-
Un cas familial d’encéphalopathie nécrosante aiguë post-infectieuse associé à une mutation du gène RANBP2 ↗Archives de Pédiatrie · 2013 · PMID 24321870not yet assessed
-
P28 – 2016 Cognitive and behavioural study of 24 consecutive patients with a Dravet syndrome ↗European Journal of Paediatric Neurology · 2013not yet assessed
-
Le syndrome hamartome hypothalamique : aspects électrocliniques et cognitif et évolution après traitement par Gammaknife : étude rétrospective portant sur 41 patients épileptiques ↗Archives de Pédiatrie · 2013not yet assessed
-
Epilepsias graves del niño: diagnóstico electroclínico y etiológico, principios terapéuticos ↗EMC - Pediatría · 2013not yet assessed
-
Le bilan des encéphalopathies épileptiques précoces dans la pratique quotidienne d’un service de neuropédiatrie en 2013 ↗Archives de Pédiatrie · 2013not yet assessed
-
Impact de la chirurgie de l’épilepsie sur le devenir cognitif et le contrôle des crises chez 51 enfants et adolescents suivis sur une période de 1 à 5 ans après l’intervention ↗Neurochirurgie · 2013not yet assessed
-
Implication corticale dans les spasmes épileptiques : étude de l’EEG intracérébral ↗Archives de Pédiatrie · 2013not yet assessed
-
Déficit en décarboxylase des acides amines aromatiques (AADC) chez dix patients français : particularités phénotypiques ↗Archives de Pédiatrie · 2013not yet assessed
-
Éverolimus chez des patients atteints d’astrocytomes sous épendymaires à cellules géantes (SEGA) associés à une sclérose tubéreuse de Bourneville (STB) en France : résultats préliminaires. Étude européenne Effects ↗Archives de Pédiatrie · 2013not yet assessed
-
Épilepsies graves de l’enfant : diagnostic électroclinique et étiologique, principes de prise en charge ↗EMC - Pédiatrie - Maladies infectieuses · 2013not yet assessed
-
Impact de la chirurgie de l’épilepsie sur le devenir cognitif et le contrôle des crises chez 55 enfants et adolescents suivis sur une période de un à cinq ans après l’intervention ↗Archives de Pédiatrie · 2013not yet assessed
-
PP2.2 – 2026 Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy ↗European Journal of Paediatric Neurology · 2013not yet assessed
-
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient ↗Orphanet Journal of Rare Diseases · 2012 · PMID 22452838not yet assessed
-
Recurrent mutations in the <i>CDKL5</i> gene: Genotype–phenotype relationships ↗American Journal of Medical Genetics Part A · 2012 · PMID 22678952not yet assessed
-
Maturation of the human brain and epilepsy ↗Handbook of clinical neurology · 2012 · PMID 22938967not yet assessed
-
Life-saving decompressive craniectomy for acute disseminated encephalomyelitis in a child: a case report ↗Child s Nervous System · 2012 · PMID 22399246not yet assessed
-
Évaluation des besoins en éducation thérapeutique auprès des parents d’enfants et d’adolescents ayant une épilepsie ↗Revue Neurologique · 2012 · PMID 22703612not yet assessed
-
Neuromyélite optique chez l’enfant. À propos de deux cas ↗Archives de Pédiatrie · 2012 · PMID 22789744not yet assessed
-
Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1 ↗Molecular Genetics and Metabolism · 2012 · PMID 22305855not yet assessed
-
Épilepsie et cytopathies mitochondriales : étude rétrospective de 53 enfants épileptiques ↗Archives de Pédiatrie · 2012 · PMID 22789745not yet assessed
-
Acute‐onset chorea, dystonia, and cardiac fibroelastoma in a child: A paraneoplastic association? ↗Movement Disorders · 2012 · PMID 23238994not yet assessed
-
not yet assessed
-
[Epilepsy in children: when is genetics useful?]. ↗PubMed · 2012 · PMID 23424917not yet assessed
-
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations ↗Epilepsia · 2011 · PMID 21770924not yet assessed
-
Depolarizing Actions of GABA in Immature Neurons Depend Neither on Ketone Bodies Nor on Pyruvate ↗Journal of Neuroscience · 2011 · PMID 21209187not yet assessed
-
Association diabète de type 1et épilepsie chez l’enfant. À propos d’une série de 10cas ↗Archives de Pédiatrie · 2011 · PMID 22112607not yet assessed
-
Mouvements anormaux dans les encéphalopathies néonatales ↗Médecine thérapeutique / Pédiatrie · 2011not yet assessed
-
Déficit moteur aigu et troubles du métabolisme énergétique ↗Archives de Pédiatrie · 2011not yet assessed
-
Suivi neuropédiatrique des grands prématurés ↗Archives de Pédiatrie · 2011not yet assessed
-
W16.3 A developmental switch in sensory processing prepares premature neocortex for vision ↗Clinical Neurophysiology · 2011not yet assessed
-
not yet assessed
-
Première crise d’épilepsie sans fièvre ↗Archives de Pédiatrie · 2011not yet assessed
-
Ont collaboré à cet ouvrage ↗Elsevier eBooks · 2011not yet assessed
-
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesNature Genetics · 2010 · PMID 2089027696/100
-
A Conserved Switch in Sensory Processing Prepares Developing Neocortex for Vision ↗Neuron · 2010 · PMID 20696384not yet assessed
-
Neuromyelitis optica in France ↗Neurology · 2010 · PMID 20194912not yet assessed
-
Novel mutations in <i>EPM2A</i> and <i>NHLRC1</i> widen the spectrum of Lafora disease ↗Epilepsia · 2010 · PMID 20738377not yet assessed
-
Posterior glucose hypometabolism in Lafora disease: Early and late FDG‐PET assessment ↗Epilepsia · 2010 · PMID 20163446not yet assessed
-
New onset refractory convulsive status epilepticus associated with serum neuropil auto-antibodies in a school aged child ↗Brain and Development · 2010 · PMID 21075572not yet assessed
-
P164 - Quelle place pour l’IRM musculaire dans l’orientation diagnostique des maladies neuromusculaires chez l’enfant ? ↗Archives de Pédiatrie · 2010not yet assessed
-
P310 - Phénomènes paroxystiques dans les encéphalites avec anticorps anti récepteur NMDA ↗Archives de Pédiatrie · 2010not yet assessed
-
CL056 - Association diabète de type 1 et épilepsie chez l’enfant ↗Archives de Pédiatrie · 2010not yet assessed
-
P163 - Étude des déterminants génétiques des encéphalopathies épileptiques précoces : une maladie de la neurotransmission ? ↗Archives de Pédiatrie · 2010not yet assessed
-
P169 - Neurones ↗Archives de Pédiatrie · 2010not yet assessed
-
LIS1-Related Isolated Lissencephaly ↗Archives of Neurology · 2009 · PMID 19667223not yet assessed
-
Deletion of <i>YWHAE</i> in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia ↗Journal of Medical Genetics · 2009 · PMID 19635726not yet assessed
-
Transient Brain Magnetic Resonance Imaging Hyperintensity in Basal Ganglia and Brain Stem of Epileptic Infants Treated With Vigabatrin ↗Journal of Child Neurology · 2009 · PMID 19258289not yet assessed
-
Inhibitory actions of the gamma‐aminobutyric acid in pediatric Sturge‐Weber syndrome ↗Annals of Neurology · 2009 · PMID 19743469not yet assessed
-
Handicap : définitions et classifications ↗Archives de Pédiatrie · 2009 · PMID 19541219not yet assessed
-
Devenir cognitif des enfants nés de mères épileptiques ↗Epilepsies · 2009not yet assessed
-
Traitement de l’état de mal épileptique de l’enfant : quelques données récentes ↗Archives de Pédiatrie · 2009 · PMID 19541173not yet assessed
-
TRANSPORTERS | Function of Cell-Surface Glutamate Transporters in the Brain: An Important Role for Development and Preventing Seizures ↗Elsevier eBooks · 2009not yet assessed
-
Neuromyélite optique de Devic et patients à haut risqué : enquête rétrospective nationale ↗Revue Neurologique · 2009not yet assessed
-
Key clinical features to identify girls with CDKL5 mutations ↗Brain · 2008 · PMID 18790821not yet assessed
-
Convulsions et épilepsie de l’enfant : de la crise au diagnostic ↗Archives de Pédiatrie · 2008 · PMID 18248967not yet assessed
-
Le syndrome de déficit en GLUT-1 ou maladie de De Vivo : à propos d’un cas ↗Archives de Pédiatrie · 2008 · PMID 18556184not yet assessed
-
Rapid Cortical Oscillations and Early Motor Activity in Premature Human Neonate ↗Cerebral Cortex · 2006 · PMID 16950867not yet assessed
-
Cell domain‐dependent changes in the glutamatergic and GABAergic drives during epileptogenesis in the rat CA1 region ↗The Journal of Physiology · 2006 · PMID 17008374not yet assessed
-
Ongoing Epileptiform Activity in the Post-Ischemic Hippocampus Is Associated with a Permanent Shift of the Excitatory–Inhibitory Synaptic Balance in CA3 Pyramidal Neurons ↗Journal of Neuroscience · 2006 · PMID 16807337not yet assessed
-
Inhibition of Glutamate Transporters Results in a “Suppression‐Burst” Pattern and Partial Seizures in the Newborn Rat ↗Epilepsia · 2006 · PMID 17241224not yet assessed
-
Activités électrophysiologiques précoces du cortex sensorimoteur : aspects physiologiques et pathologiques2006not yet assessed
-
Altering cannabinoid signaling during development disrupts neuronal activity ↗Proceedings of the National Academy of Sciences · 2005 · PMID 15964987not yet assessed
-
Les fonctions des transporteurs membranaires du glutamate dans le système nerveux central : un rôle essentiel dans le contrôle de l’activité des réseaux corticaux en développementEpilepsies · 2005not yet assessed
-
Glutamate transporters play a major role in the control of electrophysiological activity of neurons during the development of brainEpilepsies · 2005not yet assessed
-
Effects of Antiepileptic Drugs on Refractory Seizures in the Intact Immature Corticohippocampal Formation In Vitro ↗Epilepsia · 2003 · PMID 14636342not yet assessed
-
Werner mesomelic dysplasia with Hirschsprung disease ↗American Journal of Medical Genetics Part A · 2003 · PMID 14598345not yet assessed
Full bibliography from OpenAlex; reproducibility verdicts matched by PMID.
Author attribution follows OpenAlex disambiguation, which is imperfect — a researcher's papers can be split across profiles or mixed with a namesake.
Merged across profiles sharing this ORCID where present. See every “Milh M” paper on PubMed ↗