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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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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. |
format | Online Article Text |
id | pubmed-7777061 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
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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