تقرير
أعرض في EDS

Phenotypic Spectrum of STXBP1 Gene Mutations in an Emirati Case Series.

التفاصيل البيبلوغرافية
العنوان: Phenotypic Spectrum of STXBP1 Gene Mutations in an Emirati Case Series.
المؤلفون: Pawar N; Pediatric Neurology, Al Jalila Children's Speciality Hospital, Dubai, ARE., Farid Mir F; Pediatrics, Dubai Health Authority, Dubai, ARE., Tahir S; Pediatrics, Al Jalila Children's Speciality Hospital, Dubai, ARE., Kashyape P; Pediatric Neurology, Al Jalila Children's Speciality Hospital, Dubai, ARE., Babiker MOE; Pediatric Neurology, Al Jalila Children's Speciality Hospital, Dubai, ARE.
المصدر: Cureus [Cureus] 2023 Sep 29; Vol. 15 (9), pp. e46239. Date of Electronic Publication: 2023 Sep 29 (Print Publication: 2023).
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: Cureus, Inc Country of Publication: United States NLM ID: 101596737 Publication Model: eCollection Cited Medium: Print ISSN: 2168-8184 (Print) Linking ISSN: 21688184 NLM ISO Abbreviation: Cureus Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Palo Alto, CA : Cureus, Inc.
مستخلص: Genetic mutations are increasingly recognized as etiologic factors for epilepsy and neurodevelopmental disorders. Loss of function mutations in STXBP1, one of such genes, has, in recent years, been demonstrated to cause a broad spectrum of epilepsy syndromes and chronic neurodisabilities. Syntaxin-binding protein 1 (STXBP1) is a well-recognized membrane trafficking protein responsible for synaptic transmission and is expressed ubiquitously across the brain. Our case series presents the neurodevelopmental phenotype of children with STXBP1 mutations and is the first to be reported in an Emirati patient cohort. We gathered data on five children with genetically confirmed STXBP1 mutations, each displaying varying symptomatology, EEG features, response to antiepileptic medications, and eventual disease progression. This report reveals that a majority of STXBP1 mutations were de-novo in origin; heterozygous; pathogenic to likely pathogenic variants; clinical disease onset was predominantly during infancy in the form of developmental delays with or without seizures; most of the children had co-existing ADHD or autism spectrum disorders; typical seizure semiology at onset was in the form of infantile spasms, progressing to a melange of mixed seizure types; seizure control on antiepileptic drug therapy was variable, with all cases requiring more than two medications; global developmental delay was noted in all studied children; and MRI brain findings were unremarkable in all cases. This case series demonstrates a degree of uniformity of STXBP1 mutation disease phenotypes with international literature and provides a unique insight into the genetic profile of affected children within the Emirati population.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright © 2023, Pawar et al.)
References: Neurol Genet. 2017 Dec 18;3(6):e199. (PMID: 29264391)
Epilepsia. 2011 Oct;52(10):1820-7. (PMID: 21762454)
Epileptic Disord. 2018 Jun 1;20(3):214-218. (PMID: 29897043)
Nature. 2017 Feb 23;542(7642):433-438. (PMID: 28135719)
Turk J Pediatr. 2019;61(5):757-759. (PMID: 32105008)
Neurologia. 2016 Oct;31(8):523-7. (PMID: 25631041)
Epileptic Disord. 2021 Feb 1;23(1):40-52. (PMID: 33632673)
Lancet. 2015 Apr 4;385(9975):1305-14. (PMID: 25529582)
J Neurodev Disord. 2019 Aug 6;11(1):17. (PMID: 31387522)
Protein Sci. 2018 Aug;27(8):1364-1391. (PMID: 29893445)
Neurology. 2016 Mar 8;86(10):954-62. (PMID: 26865513)
Dev Med Child Neurol. 2013 Aug;55(8):769-72. (PMID: 23763664)
فهرسة مساهمة: Keywords: case series; developmental delay; epilepsy; genetic disease; neurology; pediatrics; seizures; stxbp1 gene mutation; uae
تواريخ الأحداث: Date Created: 20231101 Latest Revision: 20231102
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC10613780
DOI: 10.7759/cureus.46239
PMID: 37908909
قاعدة البيانات: MEDLINE
الوصف
تدمد:2168-8184
DOI:10.7759/cureus.46239