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Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort.
Türkyilmaz, Ayberk; Sager, Safiye Günes; Tekin, Emine; Terali, Kerem; Düzkalir, Hanife; Eser, Metin; Akin, Yasemin.
Afiliación
  • Türkyilmaz A; Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Ortahisar, 61100, Trabzon, Türkiye. ayberkturkyilmaz@ktu.edu.tr.
  • Sager SG; Department of Pediatric Neurology, Kartal Dr. Lütfi Kirdar City Hospital, Istanbul, Türkiye.
  • Tekin E; Department of Pediatric Neurology, Giresun University Maternity and Children Hospital, Giresun, Türkiye.
  • Terali K; Department of Medical Biochemistry, Cyprus International University Faculty of Medicine, Nicosia, Cyprus.
  • Düzkalir H; Department of Radiology, Kartal Dr. Lütfi Kirdar City Hospital, Istanbul, Türkiye.
  • Eser M; Department of Medical Genetics, Ümraniye Research and Training Hospital, Istanbul, Türkiye.
  • Akin Y; Department of Pediatrics, Kartal Dr. Lütfi Kirdar City Hospital, Istanbul, Türkiye.
Neurogenetics ; 25(2): 119-130, 2024 Apr.
Article en En | MEDLINE | ID: mdl-38388889
ABSTRACT
The terms developmental epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) designate a spectrum of conditions that are typified by different combinations of motor, cognitive, language, and behavioral regression linked to robust spike-and-wave activity during sleep. In this study, we aimed at describing the clinical and molecular findings in "(developmental) epileptic encephalopathy with spike-and-wave activation in sleep" (D)EE-SWAS) patients as well as at contributing to the genetic etiologic spectrum of (D)EE-SWAS. Single nucleotide polymorphism (SNP) array and whole-exome sequencing (WES) techniques were used to determine the underlying genetic etiologies. Of the 24 patients included in the study, 8 (33%) were female and 16 (67%) were male. The median age at onset of the first seizure was 4 years and the median age at diagnosis of (D)EE-SWAS was 5 years. Of the 24 cases included in the study, 13 were compatible with the clinical diagnosis of DEE-SWAS and 11 were compatible with the clinical diagnosis of EE-SWAS. Abnormal perinatal history was present in four cases (17%), and two cases (8%) had a family history of epilepsy. Approximately two-thirds (63%) of all patients had abnormalities detected on brain computerized tomography/magnetic resonance (CT/MR) imaging. After SNP array and WES analysis, the genetic etiology was revealed in 7 out of 24 (29%) cases. Three of the variants detected were novel (SLC12A5, DLG4, SLC9A6). This study revealed for the first time that Smith-Magenis syndrome, SCN8A-related DEE type 13 and SLC12A5 gene variation are involved in the genetic etiology of (D)EE-SWAS. (D)EE-SWAS is a genetically diverse disorder with underlying copy number variations and single-gene abnormalities. In the current investigation, rare novel variations in genes known to be related to (D)EE-SWAS and not previously reported genes to be related to (D)EE-SWAS were discovered, adding to the molecular genetic spectrum. Molecular etiology enables the patient and family to receive thorough and accurate genetic counseling as well as a personalized medicine approach.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Sueño / Secuenciación del Exoma Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2024 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Sueño / Secuenciación del Exoma Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2024 Tipo del documento: Article