Autism spectrum disorder (ASD) is among the most widespread neurodevelopmental
diseases, with an approximate prevalence rate of 1 in 59. From a genetic point of view, this …

Advances in gene discovery have identified genetic variants in the solute carrier family 6
member 1 gene as a monogenic cause of neurodevelopmental disorders, including epilepsy …

Solute carrier family 6 member 1 (SLC6A1) is abundantly expressed in the develo** brain
even before the CNS is formed. Its encoded GABA transporter 1 (GAT-1) is responsible for …

Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by
altering the protein function. Thus, systematically curated clinically relevant genotype …

Neurotransmitters, such as γ-aminobutyric acid, glutamate, acetyl choline, glycine and the
monoamines, facilitate the crosstalk within the central nervous system. The designated …

Objective Mutations in γ-aminobutyric acid (GABA) transporter 1 (GAT-1)-encoding SLC6A1
have been associated with myoclonic atonic epilepsy and other phenotypes. We determined …

Purpose Previously, mutations in the voltage-gated calcium channel subunit alpha1 A
(CACNA1A) gene have been reported to be associated with paroxysmal disorders, typically …

Abstract Adenosine-to-inosine (A-to-I) RNA editing is a post-transcriptional processing event
involved in diversifying the transcriptome and is responsible for various biological …

USP25 encodes ubiquitin-specific protease 25, a key member of the deubiquitinating
enzyme family that is involved in neural fate determination. Although abnormal expression in …

Neurodevelopment is a highly organized and complex process involving lasting and often
irreversible changes in the central nervous system. Inherited disorders of neurotransmission …