Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of Life

American Journal of Human Genetics

Volumn 95, Issue 1, 2014, Pages 113-120

  Thevenon, Julien ^a,b   Milh, Mathieu ^c,d   Feillet, François ^e   St Onge, Judith ^a,b   Duffourd, Yannis ^a,b   Jugé, Clara ^b   Roubertie, Agathe ^f,g   Héron, Delphine ^h   Mignot, Cyril ^h   Raffo, Emmanuel ⁱ   Isidor, Bertrand ^j   Wahlen, Sandra ^h   Sanlaville, Damien ^k,l   Villeneuve, Nathalie ^c,m   Darmency Stamboul, Véronique ⁿ   Toutain, Annick ^o   Lefebvre, Mathilde ^a   Chouchane, Mondher ^a   Huet, Frédéric ^a   Lafon, Arnaud ^a   De Saint Martin, Anne ^p   Lesca, Gaetan ^k,l   El Chehadeh, Salima ^a   Thauvin Robinet, Christel ^a,b   Masurel Paulet, Alice ^a   Odent, Sylvie ^q   Villard, Laurent ^d   Philippe, Christophe ⁱ   Faivre, Laurence ^a,b   Rivière, Jean Baptiste ^a,b   more..

^a DIJON UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE BOURGOGNE   (France)

^c TIMONE HOSPITAL   (France)

^d AIX MARSEILLE UNIVERSITY   (France)

^e CHU NANCY BRABOIS   (France)

^f GUI DE CHAULIAC HOSPITAL   (France)

^g Montpellier University Medical Center   (France)

^h ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

ⁱ UNIVERSITY HOSPITAL OF NANCY   (France)

^j NANTES UNIVERSITY HOSPITAL   (France)

^k HOSPICES CIVILS DE LYON   (France)

^l CNRS   (France)

^m CENTRE SAINT PAUL   (France)

ⁿ Medical University of Dijon   (France)

^o UNIVERSITY HOSPITAL OF TOURS   (France)

^p UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^q RENNES UNIVERSITY HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; DISEASE ASSOCIATION; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; EPILEPSY; EXOME; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; SLC13A5 GENE; BRAIN DISEASE; COMPLICATION; FEMALE; GENETICS; MALE; MUTATION; PEDIGREE; RECESSIVE GENE; SEIZURES; APGAR SCORE; AUTISM; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; CYANOSIS; CYTOSOL; ELECTROENCEPHALOGRAM; EPILEPTIC STATE; EXON; EYE MOVEMENT DISORDER; FOCAL EPILEPSY; GENETIC ASSOCIATION; HETEROZYGOTE; HYPODONTIA; LENNOX GASTAUT SYNDROME; MAPLE SYRUP URINE DISEASE; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NEONATAL MULTIFOCAL STATUS EPILEPTICUS; NEUROLOGIC EXAMINATION; NEWBORN DISEASE; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TENDON REFLEX;

COTRANSPORTER; SLC13A5 PROTEIN, HUMAN; ANTICONVULSIVE AGENT; GENOMIC DNA;

BRAIN DISEASES; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MUTATION; PEDIGREE; SEIZURES; SYMPORTERS;

EID: 84903991624     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.06.006     Document Type: Article

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