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.2551C>T, p.Q851X p.Gln851X Case 3: in a 4-year-old Caucasian male, the 37-week product of a twin gestation with global developmental delay, hypotonia, ataxia and dysarthria
| 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 : |
| PubMedSearch : Bainbridge_2022_Brain__ |
| PubMedID: 35737950 |
| Gene_locus related to this paper: human-DAGLA |