mutations have now been recognized in infants, children, and adults presenting with a diverse group of neurological phenotypes, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and most recently, cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome. The phenotypic spectrum of -related neurological disorders continues to expand. In this case study, we report on early life epilepsy with episodic apnea potentially secondary to mutation in a Tunisian child.

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http://dx.doi.org/10.1055/s-0038-1667024DOI Listing

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