Exome and targeted sequencing have revolutionized clinical diagnosis. This has been
particularly striking in epilepsy and neurodevelopmental disorders, for which new genes or …

Ion channels are crucial in the generation and modulation of excitability in the nervous
system and have been implicated in human epilepsy. Forty-one epilepsy-associated ion …

With the development and application of next‐generation sequencing technology, the
aetiological diagnosis of genetic epilepsy is rapidly becoming easier and less expensive …

Epilepsy is a group of neurological disorders commonly associated with the neuronal
malfunction leading to generation of seizures. Recent reports point to a possible contribution …

In last few years there has been rapid increase in the knowledge of epilepsy genetics.
Nowadays, it is estimated that genetic epilepsies include over than 30% of all epilepsy …

Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset
epilepsies characterized by refractory seizures, developmental delay or regression …

Next-generation sequencing has enhanced discovery of many disease-associated genes in
previously unexplained epilepsies, mainly in developmental and epileptic encephalopathies …

Epileptic encephalopathies are severe epilepsy disorders with strong genetic bases. We
performed targeted next‐generation sequencing (NGS) in 70 patients with epileptic …

Cortical tremor is a fine rhythmic oscillation involving distal upper limbs, linked to increased
sensorimotor cortex excitability, as seen in cortical myoclonus. Cortical tremor is the …

Dominantly inherited disorders are not typically considered to be therapeutic candidates for
gene augmentation. Here, we utilized induced pluripotent stem cell-derived retinal pigment …