Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

… Depienne, Christel a,b,c,d,e ; Stevanin, Giovanni a,b,c,d ; Brice, Alexis a,b,c,d,e ; Durr,
Alexandra a,b,c,d … 12• Depienne C, Tallaksen C, Lephay JY, et al. Spastin mutations are frequent …

PCDH19 encodes protocadherin 19 on chromosome Xq22.3. This 1,148‐amino‐acid
protein, highly expressed during brain development, could play significant roles in neuronal …

SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic
synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and …

… A) Sequence electropherograms of the mutations and the missense variant (c.3319C>G/p.Arg1107Gly)
identified in association with the c.859G>T/p.Glu287X nonsense mutation. …

… Neither this variant nor another SCN1A variant was found in three patients with Rasmussen
syndrome (C Depienne & R Nabbout, personal communication). The study of additional …

Objective: SCN8A encodes the sodium channel voltage-gated α8-subunit (Na v 1.6). SCN8A
mutations have recently been associated with epilepsy and neurodevelopmental disorders. …

Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further …

Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant,
fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain …

… In parallel, the sequencing of several genes, including HCN1, in a Dutch follow-up cohort
comprising 62 cases identified the de novo c.835C>T (p.His279Tyr) substitution in a male case…