Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes

被引：10

作者：

Zima, Laura ^{[1
]}

Ceulemans, Sophia ^{[2
]}

Reiner, Gail ^{[2
,4
]}

Galosi, Serena ^{[2
,4
,5
]}

Chen, Dillon ^{[2
,4
]}

Sahagian, Michelle ^{[2
,4
]}

Haas, Richard H. ^{[2
,3
,4
]}

Hyland, Keith ^{[6
]}

Friedman, Jennifer ^{[2
,3
,4
,7
]}

机构：

[1] Univ Nebraska Med Ctr, Omaha, NE USA

[2] Rady Childrens Hosp, Div Neurol, San Diego, CA USA

[3] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA

[4] Univ Calif San Diego, Dept Neurosci, San Diego, CA 92103 USA

[5] Sapienza Univ, Dept Human Neurosci Child Neurol & Psychiat, Rome, Italy

[6] Med Neurogenet Labs, Atlanta, GA USA

[7] Rady Childrens Inst Genom Med, 8001 Frost St, San Diego, CA 92123 USA

来源：

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | 2018年 / 5卷 / 08期

关键词：

EPISODIC ATAXIA TYPE-1; POTASSIUM CHANNEL GENE; KCNA1; MUTATION; MOVEMENT-DISORDERS; PRRT2; MUTATIONS; HEMIPLEGIC MIGRAINE; HEREDITARY MYOKYMIA; INFANTILE SEIZURES; DYSKINESIA; SPECTRUM;

D O I：

10.1002/acn3.597

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Paroxysmal movement disorders encompass varied motor phenomena. Less recognized features and wide phenotypic and genotypic heterogeneity are impediments to straightforward molecular diagnosis. We describe a family with episodic ataxia type 1, initially mis-characterized as paroxysmal dystonia to illustrate this diagnostic challenge. We summarize clinical features in affected individuals to highlight underappreciated aspects and provide comprehensive phenotypic description of the rare familial KCNA1 mutation. Delayed diagnosis in this family is emblematic of the broader challenge of diagnosing other paroxysmal motor disorders. We summarize genotypic and phenotypic overlap and provide a suggested diagnostic algorithm for approaching patients with these conditions.

引用

收藏

页码：996 / 1010

页数：15

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