Andrea Accogli, Maha S Zaki, Mohammed Al-Owain, Mansour Y Otaif, Adam Jackson, Emanuela Argilli, Kate E Chandler, Christian G E L De Goede, Tülün Cora, Javeria Raza Alvi, Atieh Eslahi, Mahsa Sadat Asl Mohajeri, Setareh Ashtiani, P Y Billie Au, Alicia Scocchia, Kirsi Alakurtti, Alistair T Pagnamenta, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Majid Mojarrad, Fatemeh Arab, Fahrettin Duymuş, Morris H Scantlebury, Gözde Yeşil, Jill Anne Rosenfeld, Ayberk Türkyılmaz, Safiye Güneş Sağer, Tipu Sultan, Farah Ashrafzadeh, Tatheer Zahra, Fatima Rahman, Shazia Maqbool, Mohamed S Abdel-Hamid, Mahmoud Y Issa, Stephanie Efthymiou, Peter Bauer, Giovanni Zifarelli, Vincenzo Salpietro, Zuhair Al-Hassnan, Siddharth Banka, Elliot H Sherr, Joseph G Gleeson, Pasquale Striano, Henry Houlden, Mariasavina Severino, Reza Maroofian
LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy and nonspecific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of LNPK -related disorder...
2023: Brain communications