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Article

Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology - 1 Feb 2018

Gutiérrez Joel V, Kaufmann Horacio, Palma Jose-Alberto, Mendoza-Santiesteban Carlos, Macefield Vaughan G, Norcliffe-Kaufmann Lucy

Abstract excerpt

OBJECTIVE: To assess vestibular function in patients with familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy - caused by a mutation in the IKBKAP gene (c.2204 + 6 T>C) - and characterized by marked gait ataxia. METHODS: Cervical and vestibular evoked myogenic potentials (cVEMPs and oVEMPs) were recorded from the sternocleidomastoid (SCM) and extraocular muscles in 14 homozygous patients, 2...

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PMID: 29289840
DOI: 10.1016/j.clinph.2017.11.010

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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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