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Article

Use of Sodium Channel Blockers in the Thr226Met Pathologic Variant of SCN1A: A Case Report.

Neuropediatrics - 1 Dec 2023

Nájera-Chávez Brenda Carolina, Seeber Lea, Goldhahn Klaus, Panzer Axel

Abstract excerpt

The Thr226Met pathologic variant of the SCN1A gene has been associated with the clinical development of an early infantile developmental and epileptic encephalopathy (EIDEE) different from Dravet's syndrome. The electrophysiological mechanisms of the mutated channel lead to a paradoxical gain and loss of function. The use of sodium channel blockers (SCB) that counteract this gain of function has been described in...

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Identifiers

PMID: 37467773
DOI: 10.1055/a-2133-5343
PMCID: PMC10643020

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