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STX1B-related epilepsy in a 24-month-old female infant

We report on a 24-month-old girl with age-appropriate development and normal intellectual ability suffering from myoclonic astatic epilepsy. Panel-based sequencing of roughly 1500 genes associated with neurodevelopmental and metabolic diseases identified a heterozygous de novo point mutation in STX1...

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Autores principales: Burghardt, Katharina, Baba, Naomi, Schreyer, Isolde, Graneß, Irene, Hübner, Christian A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7777061/
https://www.ncbi.nlm.nih.gov/pubmed/33426515
http://dx.doi.org/10.1016/j.ebr.2020.100391
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author Burghardt, Katharina
Baba, Naomi
Schreyer, Isolde
Graneß, Irene
Hübner, Christian A.
author_facet Burghardt, Katharina
Baba, Naomi
Schreyer, Isolde
Graneß, Irene
Hübner, Christian A.
author_sort Burghardt, Katharina
collection PubMed
description We report on a 24-month-old girl with age-appropriate development and normal intellectual ability suffering from myoclonic astatic epilepsy. Panel-based sequencing of roughly 1500 genes associated with neurodevelopmental and metabolic diseases identified a heterozygous de novo point mutation in STX1B (c.733C>T or p.Arg245*). STX1B encodes Syntaxin-1B which plays a role for synaptic transmission. STX1B variants are associated with a broad phenotypic spectrum of epilepsies including febrile or afebrile seizures as well as epileptic encephalopathies. Our patient with MAE adds to the spectrum of STX1B associated phenotypes.
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spelling pubmed-77770612021-01-07 STX1B-related epilepsy in a 24-month-old female infant Burghardt, Katharina Baba, Naomi Schreyer, Isolde Graneß, Irene Hübner, Christian A. Epilepsy Behav Rep Case Report We report on a 24-month-old girl with age-appropriate development and normal intellectual ability suffering from myoclonic astatic epilepsy. Panel-based sequencing of roughly 1500 genes associated with neurodevelopmental and metabolic diseases identified a heterozygous de novo point mutation in STX1B (c.733C>T or p.Arg245*). STX1B encodes Syntaxin-1B which plays a role for synaptic transmission. STX1B variants are associated with a broad phenotypic spectrum of epilepsies including febrile or afebrile seizures as well as epileptic encephalopathies. Our patient with MAE adds to the spectrum of STX1B associated phenotypes. Elsevier 2020-10-14 /pmc/articles/PMC7777061/ /pubmed/33426515 http://dx.doi.org/10.1016/j.ebr.2020.100391 Text en © 2020 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Burghardt, Katharina
Baba, Naomi
Schreyer, Isolde
Graneß, Irene
Hübner, Christian A.
STX1B-related epilepsy in a 24-month-old female infant
title STX1B-related epilepsy in a 24-month-old female infant
title_full STX1B-related epilepsy in a 24-month-old female infant
title_fullStr STX1B-related epilepsy in a 24-month-old female infant
title_full_unstemmed STX1B-related epilepsy in a 24-month-old female infant
title_short STX1B-related epilepsy in a 24-month-old female infant
title_sort stx1b-related epilepsy in a 24-month-old female infant
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7777061/
https://www.ncbi.nlm.nih.gov/pubmed/33426515
http://dx.doi.org/10.1016/j.ebr.2020.100391
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