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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-01-01
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| Series: | Epilepsy & Behavior Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2589986420300393 |
| _version_ | 1819083663163260928 |
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| author | Katharina Burghardt Naomi Baba Isolde Schreyer Irene Graneß Christian A. Hübner |
| author_facet | Katharina Burghardt Naomi Baba Isolde Schreyer Irene Graneß Christian A. Hübner |
| author_sort | Katharina Burghardt |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-21T20:36:08Z |
| format | Article |
| id | doaj.art-b21832ad77cd4d6c977e831b7ac94be3 |
| institution | Directory Open Access Journal |
| issn | 2589-9864 |
| language | English |
| last_indexed | 2024-12-21T20:36:08Z |
| publishDate | 2021-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Epilepsy & Behavior Reports |
| spelling | doaj.art-b21832ad77cd4d6c977e831b7ac94be32022-12-21T18:51:06ZengElsevierEpilepsy & Behavior Reports2589-98642021-01-0115100391STX1B-related epilepsy in a 24-month-old female infantKatharina Burghardt0Naomi Baba1Isolde Schreyer2Irene Graneß3Christian A. Hübner4Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany; Corresponding author.Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, GermanyInstitute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, GermanySRH Wald-Klinikum Gera, Department of Pediatrics, Gera, GermanyInstitute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, GermanyWe 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.http://www.sciencedirect.com/science/article/pii/S2589986420300393STX1BGeneticsEpilepsyMyoclonic astatic epilepsy |
| spellingShingle | Katharina Burghardt Naomi Baba Isolde Schreyer Irene Graneß Christian A. Hübner STX1B-related epilepsy in a 24-month-old female infant Epilepsy & Behavior Reports STX1B Genetics Epilepsy Myoclonic astatic epilepsy |
| 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 | STX1B Genetics Epilepsy Myoclonic astatic epilepsy |
| url | http://www.sciencedirect.com/science/article/pii/S2589986420300393 |
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