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Article

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Brain : a journal of neurology - 1 Nov 2016

Reid Emma S, Papandreou Apostolos, Drury Suzanne, Boustred Christopher, Yue Wyatt W, Wedatilake Yehani, Beesley Clare, Jacques Thomas S, Anderson Glenn, Abulhoul Lara, Broomfield Alex, Cleary Maureen, Grunewald Stephanie, Varadkar Sophia M, Lench Nick, Rahman Shamima, Gissen Paul, Clayton Peter T, Mills Philippa B

Abstract excerpt

Neurometabolic disorders are markedly heterogeneous, both clinically and genetically, and are characterized by variable neurological dysfunction accompanied by suggestive neuroimaging or biochemical abnormalities. Despite early specialist input, delays in diagnosis and appropriate treatment initiation are common. Next-generation sequencing approaches still have limitations but are already enabling earlier and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27604308
DOI: 10.1093/brain/aww221
PMCID: PMC5091046

Genes

ACSF3
AFG3L2
DPYS
PGAP2
POMGNT1
SERAC1
TPP1

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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