An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 920-923

  Raymond, Gerald ^a,b   Wohler, Elizabeth ^a,b   Dinsmore, Carolyn ^b   Cox, Jeanne ^b   Johnston, Michael ^a,b   Batista, Denise ^a,b   Wang, Tao ^b  

^a KENNEDY KRIEGER INSTITUTE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; ETIRACETAM; PHENOBARBITAL; PYRIDOXINE; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2; SODIUM CHANNEL NAV1.3; TOPIRAMATE;

AMMONIA BLOOD LEVEL; CASE REPORT; CHROMOSOME 2Q; CHROMOSOME 2Q24.3; CHROMOSOME DUPLICATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAPHY; EPILEPSY; FACE DYSMORPHIA; FEMALE; GENE; GENE DUPLICATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; INFANT; INFANTILE EPILEPSY; LETTER; MALE; MOSAICISM; MOTOR DYSFUNCTION; PRIORITY JOURNAL; SCN1A GENE; SCN2A GENE; SCN3A GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TONIC CLONIC SEIZURE;

ADULT; CHROMOSOME BANDING; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 2; EPILEPSY; FEMALE; GENE ORDER; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MOSAICISM; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SODIUM CHANNELS;

EID: 79953310341     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33929     Document Type: Letter

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