The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood
نویسندگان
چکیده
منابع مشابه
The evolving spectrum of PRRT2-associated paroxysmal diseases.
Next-generation sequencing has identified mutations in the PRRT2 (proline-rich transmembrane protein 2) gene as the leading cause for a wide and yet evolving spectrum of paroxysmal diseases. PRRT2 mutations are found in the majority of patients with benign familial infantile epilepsy, infantile convulsions and choreoathetosis and paroxysmal kinesigenic dyskinesia, confirming a common disease sp...
متن کاملPRRT2 Mutations and PRRT2 Disorders
The recent discovery of PRRT2 mutations in Paroxysmal Kinesigenic Dyskinesia (PKD) has spurred a number of studies on PRRT2 mutations and PRRT2 disorders including PKD, Benign Familial Infantile Epilepsy (BFIE), and Infantile Convulsions with Choreoathetosis (ICCA). Mutated PRRT2 is also implicated in several other paroxysmal neurological disorders, indicating a wide phenotypic spectrum of PRRT...
متن کاملPhenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
We describe clinical, electrophysiological, histopathological and molecular features of a unique disease caused by mutations in the glycyl-tRNA synthetase (GARS) gene. Sixty patients from five multigenerational families have been evaluated. The disease is characterized by adolescent onset of weakness, and atrophy of thenar and first dorsal interosseus muscles progressing to involve foot and per...
متن کاملRole of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
Mutations in the gene PRRT2 encoding proline-rich transmembrane protein 2 have recently been identified as the cause of three clinical entities: benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis (ICCA) syndrome, and paroxysmal kinesigenic dyskinesia (PKD). Patients with ICCA have both BFIE and PKD and families with ICCA may contain individuals who exhibit all...
متن کاملParoxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene
OBJECTIVE To explore the potential causative genes of paroxysmal hypnogenic dyskinesia (PHD), which was initially considered a subtype of paroxysmal dyskinesia and has been recently considered a form of nocturnal frontal lobe epilepsy (NFLE). METHODS Eleven patients with PHD were recruited. Mutations in proline-rich region transmembrane protein-2 (PRRT2), myofibrillogenesis regulator 1 (MR-1)...
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ژورنال
عنوان ژورنال: Biomedicines
سال: 2020
ISSN: 2227-9059
DOI: 10.3390/biomedicines8110456