Reference : Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skelet...
Scientific journals : Article
Life sciences : Genetics & genetic processes
Human health sciences : Neurology
Systems Biomedicine
http://hdl.handle.net/10993/30292
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
English
Marini, Carla []
Hardies, Katia []
Pisano, Tiziana []
May, Patrick mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Weckhuysen, Sarah []
Cellini, Elena []
Suls, Arvid []
Mei, Davide []
Balling, Rudi mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
De Jonghe, Peter []
Helbig, Ingo []
Garozzo, Domenico []
EuroEPINOMICS consortium AR working group []
Guerrini, Renzo []
Apr-2017
American Journal of Medical Genetics. Part A
Wiley Liss, Inc.
173
4
1119-1123
Yes (verified by ORBilu)
International
1552-4825
1552-4833
Hoboken
NJ
[en] Epilepsy ; SLC35A3 ; Genetics
[en] We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozy- gous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability. General examination showed distal arthrog- ryposis predominant in the hands in both siblings and severe left dorso-lumbar convex scoliosis in one. WGS of the siblings-parents quartet identified novel compound heterozygous mutations in SLC35A3 in both children. SLC35A3 encodes the major Golgi uridine diphosphate N-acetylglucosamine transporter. With this study, we add SLC35A3 to the gene list of epilepsies. Neurological symptoms and skeletal abnormalities might result from impaired glycosylation of proteins involved in normal development and function of the central nervous system and skeletal apparatus.
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) ; Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) ; University of Luxembourg: High Performance Computing - ULHPC
Researchers ; Professionals
http://hdl.handle.net/10993/30292
10.1002/ajmg.a.38112
http://doi.wiley.com/10.1002/ajmg.a.38112

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