Associated Papers
Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.
Liu J et al.
Molecular Genetics & Genomic Medicine, 2023
Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report.
Pecimonova M et al.
Medicine, 2021
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate.
Kato K et al.
Journal of Human Genetics, 2019
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Broix L et al.
Nature Genetics, 2016
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