Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.

Ceylan, Ahmet Cevdet

Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature. [electronic resource] - Acta neurologica Belgica Dec 2021 - 1457-1462 p. digital

Publication Type: Case Reports; Journal Article; Review

2240-2993

10.1007/s13760-020-01328-z doi


Adolescent
Child, Preschool
Exons--genetics
Female
Gene Duplication--genetics
Homozygote
Humans
Pedigree
Receptors, Glutamate--genetics
Siblings
Spinocerebellar Degenerations--diagnostic imaging