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Article

Seizure as the presenting manifestation in Griscelli syndrome type 2.

Pediatric neurology - 1 May 2015

Panigrahi Inusha, Suthar Renu, Rawat Amit, Behera Bijaylakshmi

Abstract excerpt

BACKGROUND: Griscelli syndrome is an autosomal recessive disease that is characterized by hypopigmentation of the skin and hair, presence of large clumps of pigment in hair shafts, and accumulation of melanosomes in melanocytes; it resembles Chediak-Higashi syndrome. Griscelli syndrome type 2 is caused by mutations in the RAB27A gene and has predominant immunologic abnormalities. METHOD: A retrospective case...

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Source

Identifiers

PMID: 25801174
DOI: 10.1016/j.pediatrneurol.2015.01.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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