Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy
PBN-AR
Instytucja
Wydział Nauk o Zdrowiu (Uniwersytet Medyczny im. Piastów Śląskich we Wrocławiu)
Informacje podstawowe
Główny język publikacji
en
Czasopismo
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
ISSN
1552-4825
EISSN
1552-4833
Wydawca
WILEY-BLACKWELL
DOI
URL
Rok publikacji
2016
Numer zeszytu
12
Strony od-do
3265-3270
Numer tomu
170
Identyfikator DOI
Liczba arkuszy
0.63
Słowa kluczowe
en
GRIN2B
splicing mutation
epilepsy
epileptic encephalopathy
severe intellectual disability
speech delay
Streszczenia
Język
en
Treść
Epileptic encephalopathies (EE) include a range of severe epilepsies in which intractable seizures or severe sub-clinical epileptiform activity are accompanied by impairment of motor and cognitive functions. Mutations in several genes including ion channels and other genes whose function is not completely understood have been associated to some EE. In this report, we provide a detailed clinical description of a sporadic male patient with early-onset epilepsy and epileptic encephalopathy in whom we performed complete exome sequencing (WES) and identified a GRIN2B mutation. The GRIN2B splicing mutation in intron 10 (c.2011-1G>A) was revealed in a WES study. The result was confirmed by Sanger sequencing. No mutation was found in both parents. Our finding confirms that early-onset EE may be caused not only by gain-of-function variants but also by splice site mutations—in particular those affecting the splice acceptor site of the 10th intron of the GRIN2B gene.
Cechy publikacji
CASE_STUDY
Inne
System-identifier
757987
CrossrefMetadata from Crossref logo
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