A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing.

ABSTRACT:

Background

Facial palsy manifests as unilateral or bilateral weakness and inability to move some of the facial muscles. The aetiology may be different including idiopathic, trauma, infections or brain tumours or it can be associated with chronic neurological diseases. For instance, in recurrent migraine, an increased risk of idiopathic facial palsy (often unilateral) has been observed. Migraine is a neurovascular disorder characterized by mild to severe intensity of headaches, often associated with neuro-ophthalmological symptoms.

Methods

A family is reported where five members were affected by facial palsy associated with other clinical features including migraine, diplopia, facial swelling, eye conjunctivitis following a vertical transmission. Whole exome sequencing was pe

SUBMITTER: Azzara A 

PROVIDER: S-EPMC11235676 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature