A missense mutation in the gene encoding the α2 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
No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures / Martinelli Boneschi F; Aridon P; Zara F; Guerrini R; Marini C; De Fusco M; Comi G; Casari G.. - In: NEUROSCIENCE LETTERS. - ISSN 0304-3940. - STAMPA. - 388(2):(2005), pp. 71-74. [10.1016/j.neulet.2005.06.026]
No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures.
GUERRINI, RENZO;
2005
Abstract
A missense mutation in the gene encoding the α2 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
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