SpliceAI is an open-source deep learning splicing prediction algorithm that has demonstrated
in the past few years its high ability to predict splicing defects caused by DNA variations. …

A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary
neuropathy with liability to pressure palsies (HNPP) was established to estimate the …

About 13% of patients with epilepsy have a history of febrile seizures (FS). Studies of
familial forms suggest a genetic component to the epidemiological link. Indeed, in certain …

… musculaire progressive, souvent familiale, débutant par les pieds et invariably 33 m/s. Nerve
conduction velocity is uniformly les jambes et atteignant plus tard les mains. Rev Méd Paris …

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 …

Generalized epilepsy with febrile seizures plus type 2 (GEFS+ 2, MIM 604233) is an autosomal
dominant disorder characterized by febrile seizures in children and afebrile seizures in …

Major advances in the identification of genes implicated in idiopathic epilepsy have been
made. Generalized epilepsy with febrile seizures plus (GEFS+), benign familial neonatal …

… The latter has already been reported by Le Guern et al. with Xq linkage study. … Three of the
32 individuals in the CMTX family reported by Hahn et al. had MNCV between 20 and 29 m/s …

X-linked dominant Charcot–Marie–Tooth (CMTX) disease is a motor and sensory neuropathy
caused by mutations in the connexin 32 (CX32) gene. In this study we report the clinical, …

Introduction: Mutations in the voltage-gated sodium channel SCN1A gene are the main
genetic cause of Dravet syndrome (previously called severe myoclonic epilepsy of infancy or …