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21-06-2022 | Brief Communication

TMEM151A phenotypic spectrum includes paroxysmal kinesigenic dyskinesia with infantile convulsions

Authors: Huan Wang, Pengcheng Huang, Min Zhu, Xin Fang, Chensi Wu, Daojun Hong

Published in: Neurological Sciences | Issue 10/2022

Abstract

In a three-generation family, five individuals exhibited the typical phenotype of paroxysmal kinesigenic dyskinesia (PKD). Intriguingly, one of the individuals also showed benign familial infantile convulsions (BFIC) at age 4 months and spontaneously resolved at age 18 months. At age 12, she developed a typical PKD, and was gradually relieved at age 21. Therefore, the clinical phenotype was consistent with PKD with infantile convulsions (PKD/IC). Whole exome sequence and co-segregation analysis revealed a novel heterozygous variant c.1085A > G in the TMEM151A gene. Our study suggests that the TMEM151A gene may be associated with the disease spectrum of PKD-PKD/IC-BFIC.

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Title: TMEM151A phenotypic spectrum includes paroxysmal kinesigenic dyskinesia with infantile convulsions
Authors: Huan Wang
Pengcheng Huang
Min Zhu
Xin Fang
Chensi Wu
Daojun Hong
Publication date: 21-06-2022
Publisher: Springer International Publishing
Published in: Neurological Sciences / Issue 10/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-022-06208-3

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TMEM151A phenotypic spectrum includes paroxysmal kinesigenic dyskinesia with infantile convulsions

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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