Stéphanie Baulac

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Andrew Escayg, Bryan T. MacDonald, Miriam H. Meisler et al. · Nature Genetics · 2000 · 988 citations

Life Sciences, Genetics, Molecular Genetics +12

First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

Stéphanie Baulac, Gilles Huberfeld, Isabelle Gourfinkel‐An et al. · Nature Genetics · 2001 · 766 citations

Life Sciences, Genetics, Neuroscience +16

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Sara Baldassari, Théo Ribierre, Elise Marsan et al. · Acta Neuropathologica · 2019 · 360 citations · Full text

Medicine, Genetics, Neurosurgery +17

The <scp>ILAE</scp> consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the <scp>ILAE</scp> diagnostic methods commission

Imad Najm, Dennis Lal, Mario Alonso‐Vanegas et al. · Epilepsia · 2022 · 341 citations · Full text

Medicine, Neurology, Neuroscience +12

The phenotypic spectrum of <i>SCN8A</i> encephalopathy

Jan Larsen, Gemma L. Carvill, Elena Gardella et al. · Neurology · 2015 · 285 citations · Full text

Medicine, Genetics, Neurology +17