Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation. (March 2015)

• Record Type: Journal Article
• Authors: Straussberg, Rachel; Ganelin-Cohen, Esther; Goldberg-Stern, Hadassah; Tzur, Shay; Behar, Doron M.; Smirin-Yosef, Pola; Salmon-Divon, Mali; Basel-Vanagaite, Lina
• Is Part Of: European journal of paediatric neurology. Volume 19:Number 2(2015:Mar.)
• Page Start: 240
• Page End: 242
• Publication Date: 2015-03
• Subjects: Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2014.11.004
• Languages: English
• ISSNs: 1090-3798

Abstract

<abstract xml:lang="en" abstract-type="author" id="abs0010"> <title id="sectitle0010">Abstract</title> <sec> <p id="abspara0010">We describe two siblings born to consanguineous Arab-Muslim parents who presented in early infancy with myoclonic seizures, hypertonia and contractures, arrested head growth, inability to swallow, and bouts of apnea-bradycardia, culminating in cardiac arrest and death.</p> <p id="abspara0015">Whole-genome sequencing yielded a c.1173delG mutation in the <italic>BRAT1</italic> gene. Three recent reports identified mutations in the same gene in three infants from three Amish sibships, one Mexican neonate and two Japanese siblings with similar clinical manifestations.</p> <p id="abspara0020">The authors speculated that the destabilization of the encoded protein may underlie the catastrophic epilepsy and corticobasal neuronal degeneration. We suggest that <italic>BRAT1</italic> be added to the growing list of genes that are related to severe early infantile (neonatal) epileptic encephalopathy.</p> </sec> </abstract>