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Article

Epilepsy, status epilepticus, and hemiplegic migraine coexisting with a novel SLC4A4 mutation.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2021

Gil-Perotín Sara, Jaijo Teresa, Verdú Andrés G, Rubio Pilar, Mazón Miguel, Gasqué-Rubio Raquel, Díaz Samuel

Abstract excerpt

BACKGROUND: Recessive mutations in the SLC4A4 gene cause a syndrome characterised by proximal renal tubular acidosis (pRTA), mental retardation, dental and ocular abnormalities, and hemiplegic migraine. Rare cases involving the development of epilepsy or its severe complication-status epilepticus-have been described. METHODS: The clinical and genetic status of four affected members in a Spanish family was...

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Identifiers

PMID: 33439394
DOI: 10.1007/s10072-020-04961-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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