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Article

Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

Epilepsy research - 1 Jan 2015

Lim Byung Chan, Hwang Hee, Kim Hunmin, Chae Jong-Hee, Choi Jieun, Kim Ki Joong, Hwang Yong Seung, Yum Mi-Sun, Ko Tae-Sung

Abstract excerpt

The deletion of a sodium channel gene cluster located on chromosome 2q24.3 is associated with variable epilepsy phenotypes, including Dravet syndrome and migrating partial seizures of infancy. Although SCN1A is considered as the major contributor to the epilepsy phenotype, the role of other sodium channel genes that map within this cluster has not been delineated. We presented five new cases with a chromosome...

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PMID: 25524840
DOI: 10.1016/j.eplepsyres.2014.10.008

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