Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0036572 (
seizures
)
80,221
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The introduction of massive parallel sequencing has led to the identification of multiple novel genes for intellectual disability (ID) as well as epilepsy. Whereas dominant de novo mutations have been proven to be a leading cause for these disorders, they do not apply to families suggestive of an autosomal recessive inheritance pattern. In this study, we combined the use of linkage analysis with exome sequencing to elucidate the cause of moderate non-syndromic ID, epilepsy and behavioural problems in a consanguineous Asian family. A founder missense mutation was identified in
STYXL1
. We propose this as a novel candidate gene involved in ID, accompanied by
seizures
and behavioural problems. Our findings further confirm the genetic heterogeneity of cognitive disorders and genetic epilepsy.
...
PMID:Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities. 2572 87
