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GENATLAS PHENOTYPE

last update : 17-09-2024

Symbol	NDSEA
Location	8q21.11
Name	neurodevelopmental syndrome with epilepsy and autism
Corresponding gene	KCNB2
Main clinical features	global developmental delay, intellectual disability, epilepsy; mild autistic traits or autistic spectrum disorder also various facial dysmorphisms, and hand anomalies
Genetic determination	not applicable
Function/system disorder	mental retardation
	neurology
	psychiatry disorder
Type	disease

Remark(s)

. de novo KCNB2 variants cause neurodevelopmental disorders and these variants either significantly reduce the currents generated by these Kv channels or shift the voltage dependence of inactivation to hyperpolarized membranes and increase the extent of inactivation as compared to WT (PMID: 38503299))