Article
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
Epilepsia - 1 Mar 2015
Paciorkowski Alex R, McDaniel Sharon S, Jansen Laura A, Tully Hannah, Tuttle Emily, Ghoneim Dalia H, Tupal Srinivasan, Gunter Sonya A, Vasta Valeria, Zhang Qing, Tran Thao, Liu Yi B, Ozelius Laurie J, Brashear Allison, Sweadner Kathleen J, Dobyns William B, Hahn Sihoun
Abstract excerpt
OBJECTIVE: Mutations of ATP1A3 have been associated with rapid onset dystonia-parkinsonism and more recently with alternating hemiplegia of childhood. Here we report one child with catastrophic early life epilepsy and shortened survival, and another with epilepsy, episodic prolonged apnea, postnatal microcephaly, and severe developmental disability. Novel heterozygous mutations (p.Gly358Val and p.Ile363Asn) were...
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