Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.
Werren EA, Rodriguez Bey G, Majethia P, Kaur P, Patil SJ, Kekatpure M, Afenjar A, Qebibo L, Burglen L, Tomoum H, Demurger F, Duborg C, Siddiqui S, Tsan YC, Abdullah U, Ali Z, Saadi SM, Baig SM, Houlden H, Maroofian R, Padiath QS, Bielas SL, Shukla A.
Werren EA, et al. Among authors: baig sm.
Brain. 2024 Sep 18:awae299. doi: 10.1093/brain/awae299. Online ahead of print.
Brain. 2024.
PMID: 39292993