PRRT2, a network stability gene
نویسندگان
چکیده
منابع مشابه
PRRT2, a network stability gene
Specific paroxysmal disorders, namely benign infantile epilepsy (BFIE), kinesigenic dyskinesia (PKD), infantile convulsions and choreoathetosis (ICCA) and hemiplegic migraine (HM), are associated with mutations in the gene encoding for PRoline-Rich Transmembrane protein 2 (PRRT2; Figure 1A, 1B). PRRT2 is a neuronspecific protein expressed on neuronal membranes and at synapses, with a prevalent ...
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 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 کاملThe PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations
Heterozygous and rare homozygous mutations in PRoline-Rich Transmembrane protein 2 (PRRT2) underlie a group of paroxysmal disorders including epilepsy, kinesigenic dyskinesia episodic ataxia and migraine. Most of the mutations lead to impaired PRRT2 expression and/or function. Recently, an important role for PRTT2 in the neurotransmitter release machinery, brain development and synapse formatio...
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Using hydraulic interconnected suspension (HIS) system to improve the stability of the vehicles is a matter of recent interest of many scholars. In this paper, application of this kind of suspension system and its impact on the stability of the vehicle are studied. The governing dynamic relations of the system are presented, using free body diagram, Newton-Euler motion equations, and relations ...
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ژورنال
عنوان ژورنال: Oncotarget
سال: 2017
ISSN: 1949-2553
DOI: 10.18632/oncotarget.19506