Case study Lethal neonatal rigidity and multifocal seizure syndrome e Report of another family with a BRAT1 mutation Rachel Straussberg a,c,* , Esther Ganelin-Cohen a , Hadassah Goldberg-Stern a,c , Shay Tzur g , Doron M. Behar d,g , Pola Smirin-Yosef e,f , Mali Salmon-Divon f , Lina Basel-Vanagaite b,c,d,e a Neurgenetics Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel b Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel c Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel d Raphael Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, Israel e Felsenstein Medical Research Center, Petach Tikva, Israel f Genomic Bioinformatics Laboratory, Department of Molecular Biology, Ariel University, Ariel, Israel g Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa, Israel article info Article history: Received 23 October 2014 Received in revised form 20 November 2014 Accepted 23 November 2014 Keywords: Seizures Hypertonicity Apnea Bradycardia Epilepsy Infancy abstract 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. Whole-genome sequencing yielded a c.1173delG mutation in the BRAT1 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. The authors speculated that the destabilization of the encoded protein may underlie the catastrophic epilepsy and corticobasal neuronal degeneration. We suggest that BRAT1 be added to the growing list of genes that are related to severe early infantile (neonatal) epileptic encephalopathy. © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. 1. Introduction Early-onset epileptic encephalopathies are associated with impaired cognitive, motor, and sensory development owing to the recurrent clinical seizures and/or marked interictal epileptiform discharges. 1 Seizures starting already on day 1 of life are uncommon. 2 Newborns or infants who present with epileptic spasms, myoclonic seizures, other drug-resistant * Corresponding author. Neurogenetics Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikva 49202, Israel. Tel.: þ972 39253870; fax: þ972 3 9253871. E-mail address: rachels2@clalit.org.il (R. Straussberg). Official Journal of the European Paediatric Neurology Society european journal of paediatric neurology 19 (2015) 240 e242 http://dx.doi.org/10.1016/j.ejpn.2014.11.004 1090-3798/© 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.