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Article

Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.

Archives of neurology - 1 Jun 2011

Dibbens Leanne M, Karakis Ioannis, Bayly Marta A, Costello Daniel J, Cole Andrew J, Berkovic Samuel F

Abstract excerpt

OBJECTIVE: To report the detection of mutations in the SCARB2 gene in a previously described patient with progressive myoclonus epilepsy (PME) and demyelinating peripheral neuropathy. DESIGN: Case report. SETTING: Epilepsy Genetics Research Laboratory and Epilepsy Service in a tertiary care center. PATIENT: A 27-year old male patient with PME with preserved intellect and peripheral neuropathy. RESULTS: We have...

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Source

Identifiers

PMID: 21670406
DOI: 10.1001/archneurol.2011.120

Genes

SCARB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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