Intellectual disability and autism spectrum disorder (ASD) are common, and genetic testing
is increasingly performed in individuals with these diagnoses to inform prognosis, refine …

Objective “How many epilepsy genes are there?” is a frequently asked question. We sought
to (1) provide a curated list of genes that cause monogenic epilepsies, and (2) compare and …

Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many
such disorders are secondary to perturbation in brain development and/or function. The …

Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by
multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe …

Summary Eukaryotic initiation factor-4A2 (EIF4A2) is an ATP-dependent RNA helicase and
a member of the DEAD-box protein family that recognizes the 5ʹ cap structure of mRNAs …

CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals
from eleven independent families with bi-allelic variants in CELSR3. Affected individuals …

Semaphorins and Plexins form ligand/receptor pairs that are crucial for a wide range of
developmental processes from cell proliferation to axon guidance. The ability of …

Background The VPS13 family of proteins has been implicated in lipid transport and
trafficking between endoplasmic reticulum and organelles, to maintain homeostasis of …

Plexins are a family of transmembrane receptors known for their diverse roles in neural
development, axon guidance, neuronal migration, synaptogenesis, and circuit formation …

RGS (Regulator of G protein signaling) proteins have long captured the fascination of
researchers due to their intricate involvement across a wide array of signaling pathways …