A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family

Highlights • A consanguineous family from Turkey with two children resembling Dravet syndrome. • Implementation of a combined analysis of exome sequencing and SNP genotyping. • Two SCN1A variants detected; a mosaic clinical variant coinherited with a novel one. • Presence of both consanguinity and m...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Epilepsy research 2015-07, Vol.113, p.5-10
Hauptverfasser:	Tuncer, Feyza N, Gormez, Zeliha, Calik, Mustafa, Altiokka Uzun, Gunes, Sagiroglu, Mahmut S, Yuceturk, Betul, Yuksel, Bayram, Baykan, Betul, Bebek, Nerses, Iscan, Akin, Ugur Iseri, Sibel A, Ozbek, Ugur
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Compound heterozygosity Consanguinity DNA Mutational Analysis Dravet syndrome Electroencephalography Epilepsies, Myoclonic - genetics Epilepsies, Myoclonic - physiopathology Exome sequencing Exons Family Health Female Humans Male Models, Molecular Mosaicism NAV1.1 Voltage-Gated Sodium Channel - genetics Neurology Polymorphism, Single Nucleotide - genetics SCN1A Turkey
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	Highlights • A consanguineous family from Turkey with two children resembling Dravet syndrome. • Implementation of a combined analysis of exome sequencing and SNP genotyping. • Two SCN1A variants detected; a mosaic clinical variant coinherited with a novel one. • Presence of both consanguinity and mosaicism complicate inheritance pattern. • Heterozygous variants spotted in the family aid diagnosis and genetic counseling.
ISSN:	0920-1211 1872-6844
DOI:	10.1016/j.eplepsyres.2015.02.020