Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …

The TBC (T re-2/B ub2/C dc16) domain was originally identified as a conserved domain
among the tre-2 oncogene product and the yeast cell cycle regulators Bub2 and Cdc16, and …

Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders
manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the …

Background Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures
(DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to …

Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in
infancy and has autosomal-dominant inheritance. We have identified heterozygous …

Background Identification of single nucleotide polymorphisms (SNPs) for specific genes
involved in reproduction might improve reliability of genomic estimates for these low …

Exchange of proteins at sorting endosomes is not only critical to numerous signaling
pathways but also to receptor-mediated signaling and to pathogen entry into cells; however …

Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X
chromosome gene defects and disease-causing copy-number variants have been linked to …

Abstract The Tre2–Bub2–Cdc16 (TBC) domain-containing RAB-specific GTPase-activating
proteins (TBC/RABGAPs) are characterized by the presence of highly conserved TBC …

Recent advances in molecular genetics have translated into the increasing utilisation of
genetic testing in the routine clinical practice of neurologists. There has been a steady …