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ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy

18 Feb 2021

Abstract excerpt

ERBB4 encodes the tyrosine kinase receptor HER4, a critical regulator of normal cell function and neurodevelopmental processes in the brain. One of the key ligands of HER4 is neureglin-1 (NRG1), and the HER4-NRG1 signalling pathway is essential in neural crest cell migration, and neuronal differentiation. Pharmacological inactivation of HER4 has been shown to hasten the progression of epileptogenesis in rodent...

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PMID: 33603162
DOI: 10.1038/s41431-021-00815-y

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