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Article

Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2020

Terrone Gaetano, Pinelli Michele, Bernardo Pia, Parrini Elena, Imperati Floriana, Brunetti-Pierri Nicola, Del Giudice Ennio

Abstract excerpt

Mutations in SPTAN1 gene are responsible for a wide spectrum of neurodevelopmental disorders including early-onset epileptic encephalopathy with progressive brain atrophy, severe intellectual disability with cerebellar malformations, and relatively milder phenotypes with or without epilepsy. Herein, we report three affected individuals including two siblings of 13 and 8 years and their 39-year-old mother,...

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Identifiers

PMID: 32811770
DOI: 10.1016/j.ejpn.2020.07.008

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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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