Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Thevenon, Julien

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. [electronic resource] - American journal of human genetics Jul 2014 - 113-20 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2014.06.006 doi


Brain Diseases--complications
Female
Genes, Recessive
Humans
Male
Mutation
Pedigree
Seizures--etiology
Symporters--genetics