Article
ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report.
Brain & development - 1 Jan 2023
Moriyama Kengo, Mizuno Tomoko, Suzuki Tomonori, Inaji Motoki, Maehara Taketoshi, Fujita Atsushi, Kato Mitsuhiro, Matsumoto Naomichi
Abstract excerpt
BACKGROUND: VariousATP1A3variant-related diseases have been reported, including alternating hemiplegia of childhood; rapid-onset dystonia-parkinsonism; and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome. Moreover, a few cases of developmental and epileptic encephalopathy (DEE) with none of these symptoms have been reported. Here, we present a case of DEE with early...
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