The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Alexandre N DattaNadia Bahi-BuissonThierry BienvenuSarah E BuerkiFiona GardinerJ Helen CrossBénédicte HeronAnna KaminskaChristian M KorffAnne LepineGaëtan LescaAmy McTagueHeather C MeffordCyrill MignotMatthieu MilhAmélie PitonRonit M PresslerSusanne RufLynette Grant SadleirAnne de Saint MartinKoen Van GassenNienke E VerbeekDorothee M VilleNathalie VilleneuvePia ZacherIngrid Eileen SchefferJohannes R LemkePublished in: Epilepsia (2021)
X-linked ALG13-related DEE usually manifests as West syndrome with severe to profound developmental delay. It is predominantly caused by the recurrent de novo missense variant p.(Asn107Ser). Comprehensive functional studies will be able to prove or disprove an association with congenital disorder of glycosylation.