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Article

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy.

Epilepsia - 1 Apr 2020

Sadleir Lynette G, de Valles-Ibáñez Guillem, King Chontelle, Coleman Matthew, Mossman Stuart, Paterson Sarah, Nguyen John, Berkovic Samuel F, Mullen Saul, Bahlo Melanie, Hildebrand Michael S, Mefford Heather C, Scheffer Ingrid E

Abstract excerpt

Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence epilepsy to developmental and epileptic encephalopathies. We identified novel RORB variants in 11 affected individuals from four families. One was from whole genome sequencing and three were from RORB screening of three epilepsy cohorts: developmental and epileptic encephalopathies...

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Identifiers

PMID: 32162308
DOI: 10.1111/epi.16475
PMCID: PMC7363501

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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