Human mutations in SLITRK3 implicated in GABAergic synapse development in mice

Human mutations in SLITRK3 implicated in GABAergic synapse development in mice

This study reports on biallelic homozygous and monoallelic de novo variants in SLITRK3 in three unrelated families presenting with epileptic encephalopathy associated with a broad neurological involvement characterized by microcephaly, intellectual disability, seizures, and global developmental dela...

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Main Authors: Stephanie Efthymiou, Wenyan Han, Muhammad Ilyas, Jun Li, Yichao Yu, Marcello Scala, Nancy T. Malintan, Nikoleta Vavouraki, Kshitij Mankad, Reza Maroofian, Clarissa Rocca, Vincenzo Salpietro, Shenela Lakhani, Eric J. Mallack, Timothy Blake Palculict, Hong Li, Guojun Zhang, Faisal Zafar, Nuzhat Rana, Noriko Takashima, Hayato Matsunaga, Claudia Manzoni, Pasquale Striano, Mark F. Lythgoe, Jun Aruga, Wei Lu, Henry Houlden
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Molecular Neuroscience
Subjects:
SLITRK3
GABAergic synapse development
epilepsy
global developmental delay
inhibitory synaptic transmission
NGS - next generation sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2024.1222935/full

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