Gene Locus : human-DAGLA
Mode of mutation : Natural mutant
Disease : Neuro-ocular DAGLA-related syndrome
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : c.2484delC, p.E829RfsX6 p.Glu829RfsX6 case 2: in a9-year-old African American male with global developmental delay, hypotonia, ataxia, dysarthria, nystagmus, and intellectual disability || c.2484delC, p.E829RfsX6 p.Glu829ArgfsX6 Case 5 and sibling Case6: in 15-year-old Caucasians male and female with global developmental delay, hypotonia, ataxia, dysarthria, nystagmus, and intellectual disability.
Title : Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS) - Bainbridge_2022_Brain__ |
Author(s) : Bainbridge MN , Mazumder A , Ogasawara D , Abou Jamra R , Bernard G , Bertini E , Burglen L , Cope H , Crawford A , Derksen A , Dure L , Gantz E , Koch-Hogrebe M , Hurst ACE , Mahida S , Marshall P , Micalizzi A , Novelli A , Peng H , Rodriguez D , Robbins SL , Rutledge SL , Scalise R , Schliesske S , Shashi V , Srivastava S , Thiffault I , Topol S , Qebibo L , Wieczorek D , Cravatt B , Haricharan S , Torkamani A , Friedman J |
Ref : Brain , : , 2022 |
Abstract : Bainbridge_2022_Brain__ |
ESTHER : Bainbridge_2022_Brain__ |
PubMedSearch : Bainbridge_2022_Brain__ |
PubMedID: 35737950 |
Gene_locus related to this paper: human-DAGLA |