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Article

Epilepsy phenotypes in siblings with Norrie disease.

Brain & development - 1 Nov 2015

Okumura Akihisa, Arai Eisuke, Kitamura Yuri, Abe Shinpei, Ikeno Mitsuru, Fujimaki Takuro, Yamamoto Toshiyuki, Shimizu Toshiaki

Abstract excerpt

Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to in...

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Source

Identifiers

PMID: 25944760
DOI: 10.1016/j.braindev.2015.04.004

Genes

NDP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25944760-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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