Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family.
|
26936445 |
2016 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur.
|
22243967 |
2012 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PRRT2 mutations account for 61.5% (8 out of 13) of familial PKD/IC and 33.3% (5 out of 15) of apparently sporadic PKD/IC in the Taiwanese cohort.
|
22870186 |
2012 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the proline-rich transmembrane protein 2 gene (PRRT2) are known to cause clinical symptoms of paroxysmal kinesigenic dyskinesia (PKD), benign partial epilepsy in infancy (BPEI), and infantile convulsions with choreoathetosis (ICCA) syndrome; however, not all patients with BPEI have PRRT2 mutations, and the genetic backgrounds for such patients are still unknown.
|
26561923 |
2015 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur.
|
22243967 |
2012 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe a case of PKD/IC and 16p11.2 deletion syndrome and discuss modifiers of PRRT2 activity to explain the rare concurrence of both syndromes.
|
24100940 |
2013 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PRRT2 genetic mutations were identified in 28 out of 58 individuals with PKD/IC (48%), 1/182 individuals with EA, and 1/128 individuals with HM.
|
23077024 |
2012 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.
|
25403460 |
2015 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene on chromosome 16p11.2 have recently been identified as a cause of paroxysmal kinesigenic dyskinesias (PKD), infantile convulsions and choreoathetosis (ICCA) syndrome or infantile convulsions (IC).
|
24755245 |
2014 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PRRT2 mutations were also found in PKD/IC with migraine: p.R217Pfs*8 cosegregated with PKD associated with HM in one family, and was also detected in one IC patient having migraine with aura, in related PKD/IC familial patients having migraine without aura, and in one sporadic migraineur with abnormal MRI.
|
23077017 |
2012 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Accumulating studies reported mutations in the gene encoding the proline-rich transmembrane protein 2 (PRRT2) to be causative for several paroxysmal neurological disorders, including paroxysmal kinesigenic dyskinesia (PKD), PKD combined with infantile seizures (ICCA), and benign familial infantile seizures (BFIS).
|
28192116 |
2017 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, no other genomic alteration that would directly cause the ICCA syndrome in those nine families was detected in the ICCA critical area.
|
21060786 |
2010 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To characterise the phenotype of a family with paroxysmal exercise induced dystonia (PED) and migraine and establish whether it is linked to the paroxysmal non-kinesigenic dyskinesia (PNKD) locus on chromosome 2q33-35, the familial hemiplegic migraine (FHM) locus on chromosome 19p, or the familial infantile convulsions and paroxysmal choreoathetosis (ICCA syndrome) locus on chromosome 16.
|
10766892 |
2000 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
|
22832103 |
2012 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
Biomarker
|
disease |
CLINGEN |
PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.
|
27172900 |
2016 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
|
23299620 |
2013 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
Biomarker
|
disease |
CLINGEN |
We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur.
|
22243967 |
2012 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
|
22101681 |
2011 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.
|
22744660 |
2012 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
|
22101681 |
2011 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
PRRT2 localizes to axons but not to dendritic processes in primary neuronal culture, and mutants associated with PKD/IC lead to dramatically reduced PRRT2 levels, leading ultimately to neuronal hyperexcitability that manifests in vivo as PKD/IC.
|
22832103 |
2012 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.
|
22744660 |
2012 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
|
22399141 |
2012 |