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Article

Critical roles of αII spectrin in brain development and epileptic encephalopathy.

The Journal of clinical investigation - 1 Feb 2018

Wang Yu, Ji Tuo, Nelson Andrew D, Glanowska Katarzyna, Murphy Geoffrey G, Jenkins Paul M, Parent Jack M

Abstract excerpt

The nonerythrocytic α-spectrin-1 (SPTAN1) gene encodes the cytoskeletal protein αII spectrin. Mutations in SPTAN1 cause early infantile epileptic encephalopathy type 5 (EIEE5); however, the role of αII spectrin in neurodevelopment and EIEE5 pathogenesis is unknown. Prior work suggests that αII spectrin is absent in the axon initial segment (AIS) and contributes to a diffusion barrier in the distal axon. Here, we...

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Source

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Identifiers

PMID: 29337302
DOI: 10.1172/JCI95743
PMCID: PMC5785268

Genes

SPTAN1

Provenance

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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