Faut-il toujours traiter les convulsions infantiles liées à une mutation de PRRT2 ?
(2017) Archives de pédiatrie — Vol. 24, n° 10, p. 1010-1012 (2017)
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- (en) [PRRT2 mutation and infantile convulsions] New genetic techniques have made it possible to better understand the implications of the PRRT2 gene (proline rich transmembrane protein 2) in various neurological disorders. Mutations within this gene are responsible for kinesigenic paroxysmal dyskinesias (PKD) as well as for benign familial infantile epilepsy (BFIE), a disease associating infantile convulsions and choreoathetosis (ICCA), a form of familial hemiplegic migraine (FHM type 4), paroxysmal benign torticollis of childhood, and episodic ataxia. We describe the case of an infant, carrying a mutation of the PRRT2 gene, with a classical presentation. Through her progression over time, we raise the question of systematic use of anti-epileptic drugs.
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Mathot, M., Lederer, D., Gérard, S., Gueulette, E., & Deprez, M. (2017). Faut-il toujours traiter les convulsions infantiles liées à une mutation de PRRT2 ? Archives de pédiatrie, 24(10), 1010-1012. https://doi.org/10.1016/j.arcped.2017.08.004 (Original work published 2017)