Background The ratio between excitatory (glutamatergic) and inhibitory (GABAergic) inputs
into maturing individual cortical neurons influences their epileptic potential. Structural factors …

Objective Pathogenic variants in SCN3A, encoding the voltage‐gated sodium channel
subunit Nav1. 3, cause severe childhood onset epilepsy and malformation of cortical …

Epilepsies due to SCN2A mutations can present with a broad range of phenotypes that are
still not fully understood. Clinical characteristics of SNC2A-related epilepsy may vary from …

Objective We aimed to investigate the value of exome sequencing (ES) in fetuses with
callosal anomalies (CA) with or without other structural anomalies, but with normal findings …

Objective We sought to identify novel genes and to establish the contribution of known
genes in a large cohort of patients with nonsyndromic sporadic polymicrogyria and epilepsy …

KCNB1 encodes the α-subunit of Kv2. 1, the main contributor to neuronal delayed rectifier
potassium currents. The subunit consists of six transmembrane α helices (S1–S6) …

Back ground Polymicrogyria is a malformation of cortical development with overfolding of the
cerebral cortex and abnormal cortical layering. Polymicrogyria constitutes a heterogenous …

Objective SCN2A encodes the voltage‐gated sodium (Na+) channel α subunit NaV1. 2,
which is important for the generation and forward and back propagation of action potentials …

SCN3A-related neurodevelopmental disorder (SCN3A-ND) encompasses a spectrum of
clinical severity associated with epilepsy and/or brain malformation. Affected individuals may …

ABSTRACT The centrosomal protein 83 (CEP83) is a centriolar protein involved in primary
cilium assembly, an early and critical step in ciliogenesis. Bi‐allelic pathogenic variants in …