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GENATLAS PHENOTYPE

last update : 05-06-2024

Symbol	DEE103
Location	12q21.1
Name	developmental and epileptic encephalopathy 103
Corresponding gene	KCNC2
Main clinical features	onset of various types of seizures in the first year of life, most of which are refractory to treatment, with global developmental delay, and impaired intellectual development ranging from mild to severe also hypotonia, ataxia, and behavioral abnormalities, including autism and hyperactivity
Genetic determination	autosomal dominant
Function/system disorder
Type	disease

Remark(s)