Epilepsy Spectrum Associated with <i>PRRT2</i> Variants: Case Presentations
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Published:2023-11-22
Issue:4
Volume:29
Page:121-125
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ISSN:2792-0550
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Container-title:Archives Of Epilepsy
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language:
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Short-container-title:ArchEpilepsy
Author:
Taşdelen Semı̇hORCID,
Yeşı̇l Sayın GözdeORCID,
Uğur İşerı̇ Sı̇bel Aylı̇nORCID,
Bebek NersesORCID,
Baykan BetülORCID
Publisher
Galenos Yayinevi
Reference15 articles.
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2. 2. Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet. 2011;43(12):1252-1255. [Crossref]
3. 3. Heron SE, Grinton BE, Kivity S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet. 2012;90(1):152-160. [Crossref]
4. 4. Lee HY, Huang Y, Bruneau N, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012;1(1):2-12. [Crossref]
5. 5. Michetti C, Castroflorio E, Marchionni I, et al. The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations. Neurobiol Dis. 2017;99:66-83. [Crossref]