Anne de Saint-Martin, MD
Neuropediatrician involved in clinical research for a long time, Dr Anne de Saint Martin is also coordinator of the HUS as part of the CRéER center. Her fields of expertise are phenotyping and therapeutic work in pediatric epileptology, with a good knowledge of the national network, research collaborations within the HUS also, with doctoral students working on the subject.
Main publications:
- 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, Epilepsia, 2022.
- Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy, Epilepsy Behav., 2020.
- Efficacy of a ketogenic diet in resistant myoclono-astatic epilepsy: A French multicenter retrospective study, Epilepsy research, 2017.
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