Related references
Note: Only part of the references are listed.Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family
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DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2012)
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Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis
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PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures
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PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
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PRRT2 mutations cause hemiplegic migraine
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Teun W. van Strien et al.
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PLOS ONE (2012)
The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions
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NEUROLOGY (2004)
Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome
R Caraballo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
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