Associated Papers
Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.
Yang D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical development.
Oner TO et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2021
Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.
Jenkinson EM et al.
Clinical Genetics, 2018
Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.
Abdel-Hamid MS et al.
Journal of Human Genetics, 2017
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.
Elsaid MF et al.
American Journal of Medical Genetics. Part A, 2014
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
O'Driscoll MC et al.
American Journal of Human Genetics, 2010
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