Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary

Journal of Child Neurology

Volumn 27, Issue 12, 2012, Pages 1534-1540

  Mokánszki, Attila ^a   Körhegyi, Ivett ^a   Szabó, Nóra ^b   Bereg, Edit ^b   Gergev, Gyurgyinka ^b   Balogh, Erzsébet ^a   Bessenyei, Beáta ^a   Sümegi, Andrea ^a   Morris Rosendahl, Deborah J ^c   Sztriha, László ^b   Oláh, Éva ^a  

^a UNIVERSITY OF DEBRECEN   (Hungary)

^b UNIVERSITY OF SZEGED   (Hungary)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

agyria; DCX; LIS1 (PAFAH1B1); lissencephaly; pachygyria; subcortical band heterotopia; TUBA1A

Indexed keywords

CARBAMAZEPINE; CORTICOTROPIN; DCX PROTEIN; LIS1 PROTEIN; PHENOBARBITAL; PHENYTOIN; PROTEIN; TUBA1A PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN;

AGYRIA; ARTICLE; CASE REPORT; CELL MIGRATION; CHILD; CLONIC SEIZURE; DEVELOPMENTAL DISORDER; DRUG EFFICACY; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; EXON; FEMALE; FOCAL EPILEPSY; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; HEAD CIRCUMFERENCE; HUMAN; HUMAN CELL; HUNGARY; HYPSARRHYTHMIA; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; KETOGENIC DIET; MALE; MICROCEPHALY; MICROTUBULE; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NERVE CELL; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PREDICTIVE VALUE; PRESCHOOL CHILD; PRIORITY JOURNAL; READING; SCHOOL CHILD; SEIZURE; SPIKE; SPIKE WAVE; SUBCORTICAL HETEROTOPIA; WEST SYNDROME; WRITING;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; BRAIN; CHILD; CHILD, PRESCHOOL; CLASSICAL LISSENCEPHALIES AND SUBCORTICAL BAND HETEROTOPIAS; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HUNGARY; MAGNETIC RESONANCE IMAGING; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; NEUROPEPTIDES; POLYMORPHISM, SINGLE NUCLEOTIDE; TUBULIN;

EID: 84870198309     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811436326     Document Type: Article

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