Search results for "Benign familial infantile convulsion"

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No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures

2005

A missense mutation in the gene encoding the alpha(2) Subunit of the Na+,K+ ATPase pump (ATP1A2) was found in a family with both familial hemiplegic migraine (FHM) and Benign Familial Infantile Seizures (BFIC). As it is still unclear whether ATP1A2 is responsible for pure BFIC syndromes, we checked mutations of the ATP1A2 gene in probands of 12 Italian multiplex families with pure BFIC, who were negative for mutations in the SCN2A gene. We screened the ATP1A2 gene by denaturing high performance liquid chromatography (D-HPLC) and direct sequencing of DNA fragments showing an aberrant elution pattern. We found one exonic variant and five intronic variants, none leading to significant amino ac…

ProbandBenign NeonatalMigraine DisordersMutation MissenseBenign familial infantile convulsionsBiologymedicine.disease_causeDenaturing high performance liquid chromatographyBenign familial infantile convulsions; Epilepsy; Familial hemiplegic migraine; Genetics; Epilepsy Benign Neonatal; Exons; Family Health; Humans; Infant; Introns; Italy; Migraine Disorders; Sodium-Potassium-Exchanging ATPase; Mutation MissenseExonATP1A2GeneticsmedicineHumansMissense mutationGeneFamilial hemiplegic migraineFamilial hemiplegic migraineFamily HealthGeneticsMutationEpilepsyGeneral NeuroscienceInfantExonsmedicine.diseaseEpilepsy Benign NeonatalIntronsItalyMutationBenign familial infantile convulsionMissenseSodium-Potassium-Exchanging ATPaseNeuroscience Letters
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