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Article

Nicotine: A Targeted Therapy for Epilepsy Due to nAChR Gene Variants.

Journal of child neurology - 1 Apr 2021

Fox Jordana, Thodeson Drew M, Dolce Alison M

Abstract excerpt

OBJECTIVE: Genetic variants of the neuronal nicotinic acetylcholine receptor (nAChR) cause autosomal dominant sleep-related hypermotor epilepsy. Approximately 30% of autosomal dominant sleep-related hypermotor epilepsy patients are medically intractable. In preclinical models, pathogenic nAChR variants cause a gain of function mutation with sensitivity to acetylcholine antagonists and agonists. Nicotine modifies...

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Identifiers

PMID: 33284031
DOI: 10.1177/0883073820974851

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