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Article

Complex epilepsy phenotype associated with chromosome 2q.24.2-2q24.3 deletion involving sodium channel gene cluster.

2022-09-27

Abstract excerpt

The 2q chromosome region encodes the cluster of sodium channel genes important in severe childhood epilepsy phenotypes. Our case examines the extent that 2q24.3-24.3 gene deletions contribute to our patient's complex medically refractory epilepsy and supports the use of fenfluramine and ketogenic diet as an effective treatment for these patients.

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Literature Corpus work
ceee21de-6505-5c6e-bed7-a46e9bf2d823
DOI
10.22541/au.166429804.47139730/v1
Open publication

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Complex epilepsy phenotype associated with chromosome 2q.24.2-2q24.3 deletion involving sodium channel gene cluster.DOI 10.22541/au.166429804.47139730/v1
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