Progressive ataxia related to PRRT2 gene mutation
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference10 articles.
1. PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia;Wu;Parkinsonism Relat. Disord.,2014
2. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia;Chen;Nat. Genet.,2011
3. PRRT2 is a key component of the Ca(2+)-dependent neurotransmitter release machinery;Valente;Cell Rep.,2016
4. PRRT2 mutant leads to dysfunction of glutamate signaling;Li;Int. J. Mol. Sci.,2015
5. PRRT2 mutations and paroxysmal disorders;Meneret;Eur. J. Neurol.,2013
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1. Super-refractory status epilepticus related to COVID-19 in a paediatric patient with PRRT2 mutation;Epileptic Disorders;2021-12
2. Novel and de novo point and large microdeletion mutation in PRRT2 ‐related epilepsy;Brain and Behavior;2020-03-31
3. PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?;Italian Journal of Pediatrics;2019-12
4. Galloping tongue syndrome in a PRRT2 mutation carrier;Neurology Genetics;2019-11-12
5. PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype–phenotype correlation reanalysis in literatures;International Journal of Neuroscience;2018-01-07
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