Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy-Reference-Cited by-同舟云学术

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Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy

Published:2019-06 Issue: Volume:493 Page:87-91
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Mei Libin,Huang Yanru,Chen Jing,He XueMei,Lin Shaobin,Liao Luying,Wang XiaoYan,Huang XianJing,Sha Yanwei,Ji Zhiyong,Li Ping

Funder

Natural Science Foundation of Fujian Youth Innovation Project

National Natural Science Foundation of China

Young and Middle-aged Personnel Training of Fujian Province

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference19 articles.

1. Progressive myoclonus epilepsies;Kälviäinen;Semin. Neurol.,2015

2. The autosomal recessively inherited progressive myoclonus epilepsies and their genes;Ramachandran;Epilepsia,2009

3. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects;Shahwan;Lancet Neurol.,2005

4. Progressive myoclonic epilepsies: definitive and still undetermined causes;Franceschetti;Neurology,2014

5. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins;Kollmann;Biochim. Biophys. Acta,2013

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature;Epilepsia;2024-01-17

2. Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects;Disease Models & Mechanisms;2022-09-01

3. Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy;Journal of Neurogenetics;2021-04-03

4. A Novel Mutation in KCDT7 Gene in an Indian Girl With Progressive Myoclonus Epilepsy;Cureus;2021-02-19

5. Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review;Developmental Neuroscience;2021

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