Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.

作者: Kaate R. J. Vanmolkot , Esther E. Kors , Jouke-Jan Hottenga , Gisela M. Terwindt , Joost Haan

DOI: 10.1002/ANA.10674

关键词: Missense mutationMigraine with auraMutationFamilial hemiplegic migraineATP1A2ConvulsionEndocrinologyHaplotypeEpilepsyInternal medicineMedicine

摘要: … , and 7 subjects had infantile seizures. The infantile seizures were all generalized and started … Four subjects had both FHM and benign infantile convulsions. Two FHM patients also had …

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