World's Best Scientists 2026 revealed!

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Neuroscience

D-Index
49
Citations
8125
World Ranking
6013
National Ranking
266

Overview

Mathieu Milh is affiliated with Aix-Marseille University in France. Their research primarily spans medicine and biochemistry, genetics, and molecular biology, with a strong focus on genetics and neurodevelopmental disorders.

The scientist's main fields of study include:

  • Medicine
  • Biochemistry, Genetics and Molecular Biology

Subfields closely associated with their research are:

  • Genetics
  • Psychiatry and Mental health
  • Pediatrics, Perinatology and Child Health
  • Molecular Biology
  • Cellular and Molecular Neuroscience

Milh's work revolves around several key topics including:

  • Epilepsy research and treatment
  • Genetics and Neurodevelopmental Disorders
  • Neonatal and fetal brain pathology
  • Genomics and Rare Diseases
  • Neuroscience and Neuropharmacology Research
  • Pharmacological Effects and Toxicity Studies
  • Ion channel regulation and function

The scientist has published numerous papers, frequently appearing in journals such as Epilepsia, Archives de Pédiatrie, and Genetics in Medicine. Notable recent publications include:

  • Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation, 2022, Epilepsia
  • 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, 2020, Epilepsia
  • Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation, 2020, Genetics in Medicine
  • Relationship between PET metabolism and SEEG epileptogenicity in focal lesional epilepsy, 2020, European Journal of Nuclear Medicine and Molecular Imaging
  • A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment, 2020, Epilepsia

Frequent co-authors with whom Milh has collaborated include:

  • Béatrice Desnous
  • Laurent Villard
  • Nathalie Villeneuve
  • Anne Lépine
  • Gaëtan Lesca

Publication venues where Milh's work often appears include:

  • Epilepsia
  • Archives de Pédiatrie
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Epilepsia Open
  • Genetics in Medicine

Best Publications

  • Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

    Sabine Endele;Georg Rosenberger;Kirsten Geider;Bernt Popp

  • Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

    Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada

  • Key clinical features to identify girls with CDKL5 mutations

    Nadia Bahi-Buisson;Juliette Nectoux;Juliette Nectoux;Haydeé Rosas-Vargas;Haydeé Rosas-Vargas;Mathieu Milh

  • Rapid Cortical Oscillations and Early Motor Activity in Premature Human Neonate

    Mathieu Milh;Anna Kaminska;Catherine Huon;Alexandre Lapillonne

  • A conserved switch in sensory processing prepares developing neocortex for vision

    Matthew T. Colonnese;Anna Kaminska;Anna Kaminska;Marat Minlebaev;Mathieu Milh

  • Neuromyelitis optica in France A multicenter study of 125 patients

    N. Collongues;R. Marignier;H. Zéphir;C. Papeix

  • Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.

    Rima Nabbout;Elena Belousova;Mirjana P. Benedik;Tom Carter

  • Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

    Johannes R. Lemke;Kirsten Geider;Katherine L. Helbig;Henrike O. Heyne

  • The repertoire of seizure onset patterns in human focal epilepsies: Determinants and prognostic values.

    Stanislas Lagarde;Sinziana Buzori;Agnès Trebuchon;Romain Carron

  • Interictal stereotactic-EEG functional connectivity in refractory focal epilepsies.

    Stanislas Lagarde;Nicolas Roehri;Isabelle Lambert;Agnès Trebuchon

  • Altering cannabinoid signaling during development disrupts neuronal activity

    C. Bernard;M. Milh;Y. M. Morozov;Y. Ben-Ari

  • Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

    Mathieu Milh;Nathalie Villeneuve;Mondher Chouchane;Anna Kaminska

  • TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

    Petrus J de Vries;Elena Belousova;Mirjana P Benedik;Tom Carter

  • Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

    Julien Thevenon;Mathieu Milh;François Feillet;Judith St-Onge

  • TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

    Simona Balestrini;Simona Balestrini;Simona Balestrini;Mathieu Milh;Claudia Castiglioni;Kevin Lüthy

  • Cell domain-dependent changes in the glutamatergic and GABAergic drives during epileptogenesis in the rat CA1 region

    Lynda El-Hassar;Mathieu Milh;Fabrice Wendling;Nadine Ferrand

  • 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

    Lydie Burglen;Sandra Chantot-Bastaraud;Catherine Garel;Mathieu Milh

  • Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy

    Mathieu Milh;Antonio Falace;Nathalie Villeneuve;Nicola Vanni

  • Novel KCNQ2 and KCNQ3 Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin‐1A

    Maria Virginia Soldovieri;Nadia Boutry-Kryza;Mathieu Milh;Diane Doummar

  • Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model.

    N. Lozovaya;S. Gataullina;T. Tsintsadze;V. Tsintsadze

Frequent Co-Authors

Nathalie Villeneuve
Nathalie Villeneuve Hôpital Européen
Laurent Villard
Laurent Villard Aix-Marseille University
Gaetan Lesca
Gaetan Lesca Claude Bernard University Lyon 1
Anna Kaminska
Anna Kaminska Necker-Enfants Malades Hospital
Stéphane Auvin
Stéphane Auvin Université Paris Cité
Rima Nabbout
Rima Nabbout Université Paris Cité
Aileen McGonigal
Aileen McGonigal Aix-Marseille University
Fabrice Bartolomei
Fabrice Bartolomei Aix-Marseille University
Yehezkel Ben-Ari
Yehezkel Ben-Ari Neurochlore (France)
Christel Depienne
Christel Depienne Essen University Hospital

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