<i>KCNQ2</i> encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, +20

Annals of Neurology

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Carolien G. F. de Kovel, Holger Trucks, Heather C. Mefford, +38

Brain

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

Arvid Suls, Peter Dedeken, Karolien Goffin, +24

Brain

Neurological DisorderGlucose UptakeSocial SciencesGenetic AnalysisParoxysmal Exercise-induced Dyskinesia +14

Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1

Arvid Suls, Saul A. Mullen, Yvonne Weber, +12

Annals of Neurology

Absence EpilepsiesEarly-onset Absence EpilepsyEarly‐onset Absence EpilepsyGeneticsGenetic Epidemiology +15

Early and effective treatment of <i> <scp>KCNQ</scp> 2 </i> encephalopathy

Tiziana Pisano, Adam L. Numis, Sinéad B. Heavin, +10

Epilepsia

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

Jan Larsen, Gemma L. Carvill, Elena Gardella, +74

Neurology

Dominant‐negative effects of <i>KCNQ2</i> mutations are associated with epileptic encephalopathy

Gökce Orhan, Merle Bock, Dorien Schepers, +13

Annals of Neurology

<i>GABRA1</i> and <i>STXBP1</i> : Novel genetic causes of Dravet syndrome

Gemma L. Carvill, Sarah Weckhuysen, Jacinta M. McMahon, +23

Neurology

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Caroline Nava, Carine Dalle, Agnès Rastetter, +34

Nature Genetics

Genetic DisorderGeneticsNeuroscienceNeurologyNeuropathology +2

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Arvid Suls, Johanna A. Jaehn, Angéla Kecskés, +63

The American Journal of Human Genetics

Chd2 CauseDravet SyndromeMolecular NeuroscienceNeurobiology Of DiseaseGenetic Disorder +6