TY  - GEN
AU  - Mignon-Ravix,Cécile
AU  - Milh,Mathieu
AU  - Kaiser,Charlotte Sophia
AU  - Daniel,Jens
AU  - Riccardi,Florence
AU  - Cacciagli,Pierre
AU  - Nagara,Majdi
AU  - Busa,Tiffany
AU  - Liebau,Eva
AU  - Villard,Laurent
TI  - Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst
SN  - 1098-1004
PY  - 2019///0614
KW  - Adult
KW  - Consanguinity
KW  - Epilepsies, Myoclonic
KW  - genetics
KW  - Epileptic Syndromes
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Homozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Mutation, Missense
KW  - Spasms, Infantile
KW  - Ubiquitin-Activating Enzymes
KW  - Exome Sequencing
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.23534
ER  -