Two Chinese siblings with two novel KCTD7 mutations have dystonia or seizures and epileptic discharge on electroencephalograms-Reference-Cited by-同舟云学术

Two Chinese siblings with two novel KCTD7 mutations have dystonia or seizures and epileptic discharge on electroencephalograms

Published:2019-08 Issue: Volume:70 Page:27-29
ISSN:1059-1311
Container-title:Seizure
language:en
Short-container-title:Seizure

Author:

Dai Lifang,Ding Changhong,Fang Fang

Funder

The National Key Research and Development Program of China

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology,General Medicine

Reference4 articles.

1. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy;Van Bogaert;Ann Neurol,2007

2. Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressive myoclonus epilepsy;Mei;Clin Chim Acta,2019

3. Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: the multifaceted phenotypic spectrum of KCTD7-related disorders;Mastrangelo;Eur J Med Genet,2018

4. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia;Mencacci;Am J Hum Genet,2015

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2. The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis;Neurobiology of Disease;2023-09

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