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.2370C>G, p.Y790X p.Tyr790X Case 7: in a 11-year-old Caucasian male with global developmental delay, hypotonia, ataxia, dysarthria, nystagmus, and intellectual disability with moderate cerebellar features, including ataxia, dysarthria, dysmetria, dysdiadochokinesia, abnormal pursuits and saccades as well as nystagmus
| 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 |