The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.

ABSTRACT:

Objective

Asparagine-linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clinical phenotype of a developmental and epileptic encephalopathy (DEE). Most cases were females carrying the recurrent ALG13 de novo variant, p.(Asn107Ser), with normal transferrin electrophoresis.

Methods

We delineate the phenotypic spectrum of 38 individuals, 37 girls and one boy, 16 of them novel and 22 published, with the most common pathogenic ALG13 variant p.(Asn107Ser) and additionally report the phenotype of three individuals carrying other likely pathogenic ALG13 variants.

Results

The phenotypic spectrum often comprised pharmacoresistant epilepsy with epileptic spasms, mostly with onset within the first 6 months of life and with spasm

SUBMITTER: Datta AN 

PROVIDER: S-EPMC7898319 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature