The rapid pace of disease gene discovery has resulted in tremendous advances in the field
of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, and …

Angelman syndrome (AS) is caused by a lack of expression of the maternally inherited
UBE3A gene in the brain. However, about 10% of individuals with a clinical diagnosis of AS …

Purpose Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital
anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally …

Epilepsy and autistic spectrum disorder frequently coexist in the same individual.
Electroencephalogram (EEG) epileptiform activity is also present at a substantially higher …

Abstract Zeb2 (Sip1, Zfhx1b) is a transcription factor that plays essential role in neuronal
development. Sip1 mutation in humans was shown to cause Mowat-Wilson syndrome, a …

Mowat-Wilson syndrome (MOWS) is a rare congenital disease caused by haploinsufficiency
of ZEB2, encoding a transcription factor required for neurodevelopment. MOWS is …

Purpose: Mowat–Wilson syndrome (MWS) is a genetic disease characterized by distinctive
facial features, moderate to severe intellectual disability, and congenital malformations …

Abstract The small-GTPase Rac1 is a key molecular regulator linking extracellular signals to
actin cytoskeleton dynamics. Loss-of-function mutations in RAC1 and other genes of the Rac …

Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced
eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin …

GABAergic inhibitory interneurons of the cerebral cortex expressing vasoactive intestinal
peptide (VIP-INs) are rapidly emerging as important regulators of network dynamics and …