Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22

European Journal of Paediatric Neurology

Volumn 18, Issue 6, 2014, Pages 801-805

  Cohen, Rony ^a   Basel Vanagaite, Lina ^a,b,c   Goldberg Stern, Hadassah ^a   Halevy, Ayelet ^a   Shuper, Avinoam ^a   Feingold Zadok, Michal ^a,b   Behar, Doron M ^b,d   Straussberg, Rachel ^a,c  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^b RABIN MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d RAMBAM MEDICAL CENTER   (Israel)

Author keywords

Myoclonic encephalopathy; SLC25A22 mutation

Indexed keywords

GLUTAMIC ACID; MITOCHONDRIAL GLUTAMATE; PYRIDOXINE; UNCLASSIFIED DRUG; CARRIER PROTEIN; SLC25A22 PROTEIN, HUMAN;

ARACHNODACTYLY; ARTICLE; BLINDNESS; BRAIN ATROPHY; CASE REPORT; CHILD; CLINODACTYLY; CLONIC SEIZURE; CONVULSION; DEVELOPMENTAL DISORDER; DIGITAL CLUBBING; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC DISCHARGE; FACE ASYMMETRY; FEMALE; GENE; GENE SEQUENCE; GENETIC CODE; HEAD CIRCUMFERENCE; HEAD MOVEMENT; HOMOZYGOSITY; HUMAN; INFANTILE SPASM; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MISSENSE MUTATION; MITOCHONDRION; MUSCLE HYPOTONIA; PHENOTYPE; PRESCHOOL CHILD; RETROGNATHIA; SIMIAN; SINGLE NUCLEOTIDE POLYMORPHISM; SLC25A22 GENE; SPASTICITY; TENDON REFLEX; THETA RHYTHM; VASOCONSTRICTION; WEIGHT GAIN; GENETICS; MUTATION; SIBLING; SPASMS, INFANTILE;

CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MUTATION; SIBLINGS; SPASMS, INFANTILE;

EID: 84908328123     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2014.06.007     Document Type: Article

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