Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

American Journal of Human Genetics

Volumn 93, Issue 3, 2013, Pages 524-529

  Basel Vanagaite, Lina ^a,b,c   Hershkovitz, Tova ^d   Heyman, Eli ^e   Raspall Chaure, Miquel ^f   Kakar, Naseebullah ^g   Smirin Yosef, Pola ^b   Vila Pueyo, Marta ^f   Kornreich, Liora ^c   Thiele, Holger ^h   Bode, Harald ^g   Lagovsky, Irina ^a   Dahary, Dvir ⁱ   Haviv, Ami ⁱ   Hubshman, Monika Weisz ^c   Pasmanik Chor, Metsada ^b   Nürnberg, Peter ^h,j   Gothelf, Doron ^b,k   Kubisch, Christian ^g   Shohat, Mordechai ^a,b,c   Macaya, Alfons ^f   Borck, Guntram ^g   more..

^a RABIN MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

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

^d Schneider Children's Medical Center of Israel ^*  (Israel)

^e ASSAF HAROFEH MEDICAL CENTER   (Israel)

^f UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^g UNIVERSITY OF ULM   (Germany)

^h UNIVERSITY OF COLOGNE   (Germany)

ⁱ Toldot Genetics Ltd   (Israel)

^j UNIVERSITY OF COLOGNE   (Germany)

^k SHEBA MEDICAL CENTER   (Israel)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CASE REPORT; CHILD; CLINICAL FEATURE; CORPUS CALLOSUM DYSMORPHIA; ELECTROENCEPHALOGRAM; EPILEPTOGENESIS; EXOME; EXON; FEMALE; GENE; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HETEROZYGOSITY; HUMAN; LENNOX GASTAUT SYNDROME; NERVE CELL EXCITABILITY; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEIZURE THRESHOLD; SEIZURE THRESHOLD 2 GENE; SEPTUM PELLUCIDUM; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CORPUS CALLOSUM; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; SPASMS, INFANTILE;

MUS;

EID: 84883823388     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.07.005     Document Type: Article

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