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Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua

TBC1D24 mutation-related epileptic syndrome includes a wide spectrum of epilepsies. We describe a case with a homozygous TBC1D24 mutation inherited from consanguineous parents. The patient manifested epilepsia partialis continua (EPC) and rare secondary generalized tonic–clonic seizure without intel...

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Autores principales: Zhou, Qilin, Lin, Yicong, Ye, Jing, Li, Liping, Hu, Ningning, Wang, Di, Wang, Yuping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787533/
https://www.ncbi.nlm.nih.gov/pubmed/29416524
http://dx.doi.org/10.3389/fneur.2017.00750
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author Zhou, Qilin
Lin, Yicong
Ye, Jing
Li, Liping
Hu, Ningning
Wang, Di
Wang, Yuping
author_facet Zhou, Qilin
Lin, Yicong
Ye, Jing
Li, Liping
Hu, Ningning
Wang, Di
Wang, Yuping
author_sort Zhou, Qilin
collection PubMed
description TBC1D24 mutation-related epileptic syndrome includes a wide spectrum of epilepsies. We describe a case with a homozygous TBC1D24 mutation inherited from consanguineous parents. The patient manifested epilepsia partialis continua (EPC) and rare secondary generalized tonic–clonic seizure without intellectual disability or developmental delay. EPC, which involved focal limbs, came with waking and went with sleep. The genetic analysis reported a novel mutation in the TBC1D24 gene, c.229_240del (p.82_84del). The homozygous mutation was inherited from her healthy parents who were heterozygous. Morphometric analysis program (MAP), an MRI post-processing technique, was used and detected a subtle abnormality of the brain. A comprehensive analysis based on semiology, electroencephalogram, somatosensory-evoked potential, and MAP suggested a potential focal structural abnormality. This case indicates a possible correlation between the TBC1D24 mutation and brain development abnormality.
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spelling pubmed-57875332018-02-07 Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua Zhou, Qilin Lin, Yicong Ye, Jing Li, Liping Hu, Ningning Wang, Di Wang, Yuping Front Neurol Neuroscience TBC1D24 mutation-related epileptic syndrome includes a wide spectrum of epilepsies. We describe a case with a homozygous TBC1D24 mutation inherited from consanguineous parents. The patient manifested epilepsia partialis continua (EPC) and rare secondary generalized tonic–clonic seizure without intellectual disability or developmental delay. EPC, which involved focal limbs, came with waking and went with sleep. The genetic analysis reported a novel mutation in the TBC1D24 gene, c.229_240del (p.82_84del). The homozygous mutation was inherited from her healthy parents who were heterozygous. Morphometric analysis program (MAP), an MRI post-processing technique, was used and detected a subtle abnormality of the brain. A comprehensive analysis based on semiology, electroencephalogram, somatosensory-evoked potential, and MAP suggested a potential focal structural abnormality. This case indicates a possible correlation between the TBC1D24 mutation and brain development abnormality. Frontiers Media S.A. 2018-01-24 /pmc/articles/PMC5787533/ /pubmed/29416524 http://dx.doi.org/10.3389/fneur.2017.00750 Text en Copyright © 2018 Zhou, Lin, Ye, Li, Hu, Wang and Wang. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
Zhou, Qilin
Lin, Yicong
Ye, Jing
Li, Liping
Hu, Ningning
Wang, Di
Wang, Yuping
Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua
title Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua
title_full Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua
title_fullStr Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua
title_full_unstemmed Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua
title_short Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua
title_sort homozygous tbc1d24 mutation in a case of epilepsia partialis continua
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787533/
https://www.ncbi.nlm.nih.gov/pubmed/29416524
http://dx.doi.org/10.3389/fneur.2017.00750
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