Abstract
The clinical spectrum associated with ATP1A2 mutations is expanding and includes familial hemiplegic migraine, alternating hemiplegia of childhood, and epilepsy. We have identified a novel c.1766T>C. (Ile589Thr) heterozygous mutation in the ATP1A2 gene in a Saudi kindred with hemiplegic attacks and seizures. Our findings broaden the phenotypic spectrum of patients with ATP1A2 mutations.
Keywords:
ATP1A2; hemiplegic attacks; intellectual disability; seizures.
MeSH terms
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Adult
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Anticonvulsants / therapeutic use
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Child, Preschool
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Consanguinity
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DNA Mutational Analysis
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Developmental Disabilities / genetics*
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Developmental Disabilities / physiopathology
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Epilepsy / complications
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Epilepsy / drug therapy
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Epilepsy / genetics*
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Epilepsy / physiopathology
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Family
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Female
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Hemiplegia / complications
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Hemiplegia / genetics*
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Hemiplegia / physiopathology
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Humans
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Male
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Mutation*
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Pedigree
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Phenotype
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Saudi Arabia
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Sodium-Potassium-Exchanging ATPase / genetics*
Substances
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Anticonvulsants
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ATP1A2 protein, human
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Sodium-Potassium-Exchanging ATPase