DNM1 Mutation in a child associated with progressive bilateral mesial temporal sclerosis

This case represents a novel association of a DNM1 gene mutation with status epilepticus and progressive bilateral mesial temporal sclerosis. This could have future implications for treatment in patients with DNM1 mutation and refractory epilepsy as the mesial temporal sclerosis may become bilateral...

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Autores principales: Lazzara, Alexandra, Asghar, Sheila, Zacharia, Thomas, Byler, Debra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230638/
https://www.ncbi.nlm.nih.gov/pubmed/30455886
http://dx.doi.org/10.1002/ccr3.1793
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author Lazzara, Alexandra
Asghar, Sheila
Zacharia, Thomas
Byler, Debra
author_facet Lazzara, Alexandra
Asghar, Sheila
Zacharia, Thomas
Byler, Debra
author_sort Lazzara, Alexandra
collection PubMed
description This case represents a novel association of a DNM1 gene mutation with status epilepticus and progressive bilateral mesial temporal sclerosis. This could have future implications for treatment in patients with DNM1 mutation and refractory epilepsy as the mesial temporal sclerosis may become bilateral, making the patient a poor surgical candidate.
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spelling pubmed-62306382018-11-19 DNM1 Mutation in a child associated with progressive bilateral mesial temporal sclerosis Lazzara, Alexandra Asghar, Sheila Zacharia, Thomas Byler, Debra Clin Case Rep Case Reports This case represents a novel association of a DNM1 gene mutation with status epilepticus and progressive bilateral mesial temporal sclerosis. This could have future implications for treatment in patients with DNM1 mutation and refractory epilepsy as the mesial temporal sclerosis may become bilateral, making the patient a poor surgical candidate. John Wiley and Sons Inc. 2018-09-12 /pmc/articles/PMC6230638/ /pubmed/30455886 http://dx.doi.org/10.1002/ccr3.1793 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Lazzara, Alexandra
Asghar, Sheila
Zacharia, Thomas
Byler, Debra
DNM1 Mutation in a child associated with progressive bilateral mesial temporal sclerosis
title DNM1 Mutation in a child associated with progressive bilateral mesial temporal sclerosis
title_full DNM1 Mutation in a child associated with progressive bilateral mesial temporal sclerosis
title_fullStr DNM1 Mutation in a child associated with progressive bilateral mesial temporal sclerosis
title_full_unstemmed DNM1 Mutation in a child associated with progressive bilateral mesial temporal sclerosis
title_short DNM1 Mutation in a child associated with progressive bilateral mesial temporal sclerosis
title_sort dnm1 mutation in a child associated with progressive bilateral mesial temporal sclerosis
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230638/
https://www.ncbi.nlm.nih.gov/pubmed/30455886
http://dx.doi.org/10.1002/ccr3.1793
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