Early-onset epilepsy-3 with or without developmental delay (EPEO3) is an autosomal dominant neurologic disorder characterized by the onset of various types of seizures in the first months or years of life. Many patients present with febrile seizures and later develop afebrile seizures. The severity and disease course is highly variable: some affected individuals have global developmental delay or regression with impaired intellectual development, poor or absent speech, and motor delay, whereas others have normal psychomotor development. More severely affected individuals often show additional features, including hypotonia, gait ataxia, nonspecific dysmorphic features, behavioral abnormalities, and variable anomalies on brain imaging (Mattison et al., 2023, Zhao et al., 2023).
For a discussion of genetic heterogeneity of EPEO, see 617290. [from OMIM]
Also known as: ATP6C, ATP6L, ATPL, EPEO3, VATL, VPPC, Vma3, ATP6V0C
Summary: ATPase H+ transporting V0 subunit c
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