title: Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22.
abstract: OBJECTIVE
  To characterize a new subset of early myoclonic encephalopathy usually associated with metabolic etiologies with a new genetic entity.
  
  
  METHODS
  We describe two siblings with early myoclonic encephalopathy born to consanguineous parents of Arab Muslim origin from Israel. We used homozygosity mapping and candidate gene sequencing to reveal the genetic basis of the myoclonic syndrome.
  
  
  RESULTS
  We found a rare missense mutation in the gene encoding one of the two mitochondrial glutamate/H symporters, SLC25A22. The phenotype of early myoclonic encephalopathy was first linked to the same mutation in 2005 in patients of the same ethnicity as our family.
  
  
  CONCLUSIONS
  Owing to the devastating nature of this encephalopathy, we focus attention on its clinical history, epileptic semiology, distinct electroencephalography features, and genetic basis. We provide the evidence that an integrated diagnostic strategy combining homozygosity mapping with candidate gene sequencing is efficient in consanguineous families with highly heterogeneous autosomal recessive diseases.
authors.affiliation: Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva 49202, Israel. Electronic address: cohenzr@bezeqint.net.
authors.forename: Rony
authors.initials: R
authors.lastname: Cohen
authors.affiliation: Pediatric Genetic Institute, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Lina
authors.initials: L
authors.lastname: Basel-Vanagaite
authors.affiliation: Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva 49202, Israel.
authors.forename: Hadassah
authors.initials: H
authors.lastname: Goldberg-Stern
authors.affiliation: Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva 49202, Israel.
authors.forename: Ayelet
authors.initials: A
authors.lastname: Halevy
authors.affiliation: Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva 49202, Israel.
authors.forename: Avinoam
authors.initials: A
authors.lastname: Shuper
authors.affiliation: Pediatric Genetic Institute, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.
authors.forename: Michal
authors.initials: M
authors.lastname: Feingold-Zadok
authors.affiliation: Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel; Laboratory of Clinical Biochemistry, Rambam Medical Center, Haifa, Israel.
authors.forename: Doron M
authors.initials: DM
authors.lastname: Behar
authors.affiliation: Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva 49202, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Rachel
authors.initials: R
authors.lastname: Straussberg
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D035781:Siblings; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics*
chemical_list: D033681:Mitochondrial Membrane Transport Proteins; C499215:SLC25A22 protein, human
keywords: Myoclonic encephalopathy; SLC25A22 mutation