Objective Numerous genetic testing options for individuals with epilepsy have emerged over
the past decade without clear guidelines regarding optimal testing strategies. We performed …

Ion channel dysfunction is a key pathological substrate of episodic neurological disorders. A
classical gene associated to paroxysmal movement disorders is CACNA1A, which codes for …

Dravet syndrome (DS) is a developmental and epileptic encephalopathy with evolving
disease course as individuals age. In recent years, the treatment landscape of DS has …

Background Genotype–phenotype correlations of the CACNA1A-related
neurodevelopmental disorders such as global developmental delay (GDD)/intellectual …

Dravet syndrome (DS) and Lennox–Gastaut syndrome (LGS) are rare developmental and
epileptic encephalopathies associated with seizure and nonseizure symptoms. A …

SCN8A-related epilepsy with encephalopathy is characterized by developmental delay,
seizure onset in the first 18 months of life (mean 4 months), and intractable epilepsy …

Objective Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome
(IESS) in children is scarce in develo** countries. This multicentre collaboration evaluated …

SNAREs (soluble N-ethylmaleimide sensitive factor attachment protein receptor) are an
heterogeneous family of proteins that, together with their key regulators, are implicated in …

In this study, we have evaluated the underlying aetiologies, yield of genetic testing and long-
term outcomes in patients with early-infantile developmental and epileptic …

The application of genomic technologies has led to unraveling of the complex genetic
landscape of disorders of epilepsy, gaining insights into their underlying disease …