Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

Journal of Medical Genetics

Volumn 44, Issue 12, 2007, Pages 791-796

  Heron, Sarah E ^a,b   Cox, K ^a   Grinton, B E ^c   Zuberi, S M ^d   Kivity, Sara ^e   Afawi, Z ^f   Straussberg, R ^e   Berkovic, S F ^c   Scheffer, I E ^c   Mulley, John C ^a,b,g  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

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

^f TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^g UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL KCNQ2;

ADULT; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; HUMAN; INFANT; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPILEPSY; EPILEPSY, BENIGN NEONATAL; EXONS; FEMALE; GENE DELETION; GENE DUPLICATION; HUMANS; INFANT; INFANT, NEWBORN; KCNQ2 POTASSIUM CHANNEL; MALE; MIDDLE AGED; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 37249047395     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.051938     Document Type: Article

References (15)

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