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Complex epilepsy phenotype associated with chromosome 2q.24.2-2q24.3 deletion involving sodium channel gene cluster.
  • Rima Madan,
  • Fiorella Guido,
  • Nicole Brescia
Rima Madan
Yale School of Medicine

Corresponding Author:rima.madan@yale.edu

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Fiorella Guido
SUNY Upstate Medical University College of Medicine
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Nicole Brescia
SUNY Upstate Medical University College of Medicine
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Abstract

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.
20 Dec 2021Submitted to Clinical Case Reports
27 Sep 2022Assigned to Editor
27 Sep 2022Submission Checks Completed
04 Oct 2022Reviewer(s) Assigned
12 Nov 2022Review(s) Completed, Editorial Evaluation Pending
23 Nov 2022Editorial Decision: Revise Minor