在最初的两个印度家庭中发现与tmem151a相关的阵发性运动障碍

IF 3.4 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders Pub Date : 2025-08-24 DOI:10.1016/j.parkreldis.2025.108010

Revathi Sampath , Prabhakara Somanna , Anbazhagan Kolandaswamy , Sahana Rajashekhar , Prashanth Lingappa Kukkle

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引用次数: 0

摘要

除了PRRT2变异外，已知TMEM151A的致病变异是阵发性运动障碍的遗传原因。通过全外显子组测序，我们在family-1患者的兄弟姐妹中发现了一种已知的变异（C . 368g >； C; p. Arg123Pro），在family-2患者中发现了一种新的杂合变异（C . 335t >； C; p. Leu112Pro）。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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TMEM151A-related Paroxysmal Kinesigenic Dyskinesia in first two Indian families

The pathogenic variants of TMEM151A are known to be the genetic cause for Paroxysmal Kinesigenic Dyskinesia apart from PRRT2 variants. Through whole exome sequencing, we identified a known variant (c.368G > C; p. Arg123Pro) in the affected siblings of family-1 and a novel heterozygous variant (c.335T > C; p. Leu112Pro) in the patient of family-2.

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来源期刊

Parkinsonism & related disorders 医学-临床神经学

CiteScore

6.20

自引率

4.90%

发文量

292

审稿时长

39 days

期刊介绍： Parkinsonism & Related Disorders publishes the results of basic and clinical research contributing to the understanding, diagnosis and treatment of all neurodegenerative syndromes in which Parkinsonism, Essential Tremor or related movement disorders may be a feature. Regular features will include: Review Articles, Point of View articles, Full-length Articles, Short Communications, Case Reports and Letter to the Editor.