Tania Djémié

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

Jan Larsen, Gemma L. Carvill, Elena Gardella et al. · Neurology · 2015 · 282 citations · Full text

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 et al. · The American Journal of Human Genetics · 2013 · 219 citations · Full text

Chd2 Cause, Dravet Syndrome, Molecular Neuroscience +8

<i>CHD2</i> myoclonic encephalopathy is frequently associated with self-induced seizures

Rhys H. Thomas, Lin Mei Zhang, Gemma L. Carvill et al. · Neurology · 2015 · 98 citations · Full text

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

Carolien G. F. de Kovel, Eva H. Brilstra, Marjan J. A. van Kempen et al. · Molecular Genetics & Genomic Medicine · 2016 · 89 citations · Full text

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

Katia Hardies, Yiying Cai, Claude Jardel et al. · Brain · 2016 · 80 citations · Full text

Neurological Disorder, Synaptic Transmission, Genetics +18