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Article

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

Journal of human genetics - 1 Apr 2015

Tohyama Jun, Nakashima Mitsuko, Nabatame Shin, Gaik-Siew Ch'ng, Miyata Rie, Rener-Primec Zvonka, Kato Mitsuhiro, Matsumoto Naomichi, Saitsu Hirotomo

Abstract excerpt

Recent progress in genetic analysis reveals that a significant proportion of cryptogenic epileptic encephalopathies are single-gene disorders. Mutations in numerous genes for early-onset epileptic encephalopathies have been rapidly identified, including in SPTAN1, which encodes α-II spectrin. The aim of this review is to delineate SPTAN1 encephalopathy as a distinct clinical syndrome. To date, a total of seven...

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Source

Identifiers

PMID: 25631096
DOI: 10.1038/jhg.2015.5

Genes

SPTAN1

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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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SPTAN1 encephalopathy: distinct phenotypes and genotypes.PMID 25631096Read ↗

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