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Public Documents
1
Complex epilepsy phenotype associated with chromosome 2q.24.2-2q24.3 deletion involvi...
Rima Madan
and 2 more
September 27, 2022
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.