Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

Journal: Autophagy

Publication Year: 2016

Authors & Co-authors:  Klionsky Abdelmohsen Abe Abedin Abeliovich Acevedo Arozena Adachi Adams Adams Adeli

An iPSC line (FINi003-A) from a male with late-onset developmental and epileptic encephalopathy caused by a heterozygous p.E1211K variant in the SCN2A gene encoding the voltage-gated sodium channel Na1.2.

Journal: Stem cell research

Publication Year: 2024

Authors & Co-authors:  Ovchinnikov Jong Cuddy Dalby Devinsky Mullen Maljevic Petrou

Variant-specific in vitro neuronal network phenotypes and drug sensitivity in SCN2A developmental and epileptic encephalopathy.

Journal: Journal of neurochemistry

Publication Year: 

Authors & Co-authors:  Jia Li Pachernegg Sedo Jancovski Burbano Dalby Nemiroff Reid Maljevic