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 …

Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused
by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular …

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. …

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 …

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 …

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

Hyperpolarization-activated, cyclic nucleotide–gated (HCN) channels contribute to cationic I
h current in neurons and regulate the excitability of neuronal networks. Studies in rat models …

Hereditary spastic paraplegias (HSP) are neurodegenerative diseases mainly characterized
by lower limb spasticity associated, in complicated forms, with additional neurological signs. …

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 …

Objective: Tourette’s syndrome is polygenic and highly heritable. Genome-wide association
study (GWAS) approaches are useful for interrogating the genetic architecture and …