Complex epilepsy phenotype associated with chromosome 2q.24.2-2q24.3
deletion involving sodium channel gene cluster.
- Rima Madan
, - Fiorella Guido,
- Nicole Brescia
Fiorella Guido
SUNY Upstate Medical University College of Medicine
Author ProfileNicole Brescia
SUNY Upstate Medical University College of Medicine
Author ProfileAbstract
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 2022Submission Checks Completed
27 Sep 2022Assigned to Editor
04 Oct 2022Reviewer(s) Assigned
12 Nov 2022Review(s) Completed, Editorial Evaluation Pending
23 Nov 2022Editorial Decision: Revise Minor
