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Article

Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy.

Human molecular genetics - 4 May 2022

Ishida Saeko, Zhao Di, Sawada Yuta, Hiraoka Yuichi, Mashimo Tomoji, Tanaka Kohichi

Abstract excerpt

The most frequent genetic cause of focal epilepsies is variations in the GAP activity toward RAGs 1 complex genes DEP domain containing 5 (DEPDC5), nitrogen permease regulator 2-like protein (NPRL2) and nitrogen permease regulator 3-like protein (NPRL3). Because these variations are frequent and associated with a broad spectrum of focal epilepsies, a unique pathology categorized as GATORopathy can be...

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Identifiers

PMID: 34965576
DOI: 10.1093/hmg/ddab337
PMCID: PMC9071434

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