B

A

BOROVIKOV , Artem

Last name: BOROVIKOV

First name: Artem

2020 (v1)

Publication

Metadata-only

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

Scala, Marcello Chua, Geok Lin Chin, Cheen Fei

Major Facilitator Superfamily Domain containing 2a (MFSD2A) is an essential endothelial lipid transporter at the blood-brain barrier. Biallelic variants affecting function in MFSD2A cause autosomal recessive primary microcephaly 15 (MCPH15, OMIM# 616486). We sought to expand our knowledge of the phenotypic spectrum of MCPH15 and demonstrate the...

Uploaded on: March 27, 2023
2022 (v1)

Publication

Metadata-only

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Johannesen, Katrine M Liu, Yuanyuan Koko, Mahmoud

We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel Na(v)1.6, with the aim of describing clinical phenotypes related to functional effects. Six different clinical subgroups were identified: Group 1, benign familial...

Uploaded on: January 31, 2024