P. Meyer

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

R. Nabbout, D. Ville, B. Desnous, 2022, Epilepsia.

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

P. Striano, J. Jacobs, N. Absalom, 2022, Nature Communications.

Autoimmune Cerebellar Ataxia Associated with Anti-Glutamate Receptor δ2 Antibodies: a Rare but Treatable Entity.

S. Demeret, M. Benaiteau, L. Do, 2023, Cerebellum.

Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy

Anne de Saint Martin, A. Afenjar, P. Berquin, 2021, Epilepsy & Behavior.

Dermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients.

C. Coubes, D. Bessis, A. Roubertie, 2022, Annales de dermatologie et de venereologie.

Human Mutation

Anne de Saint Martin, I. Scheffer, H. Mefford, 2019 .

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

I. Scheffer, H. Mefford, A. Munnich, 2020, Epilepsia.