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Volume 48, Issue 1, Pages (January 2013)

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Presentation on theme: "Volume 48, Issue 1, Pages (January 2013)"— Presentation transcript:

1 Volume 48, Issue 1, Pages 63-66 (January 2013)
Novel KCNQ2 Mutation in a Large Emirati Family With Benign Familial Neonatal Seizures  Imad Y. Saadeldin, MD, Reham M. Milhem, MSc, Lihadh Al-Gazali, MBCHB, Bassam R. Ali, PhD  Pediatric Neurology  Volume 48, Issue 1, Pages (January 2013) DOI: /j.pediatrneurol Copyright © 2013 Elsevier Inc. Terms and Conditions

2 Figure 1 Pedigree illustrates four generations of a large Emirati family. Solid black symbols indicate individuals in the family who were diagnosed with a mutation or who demonstrated a history of seizures. Open symbols indicate healthy individuals. Pediatric Neurology  , 63-66DOI: ( /j.pediatrneurol ) Copyright © 2013 Elsevier Inc. Terms and Conditions

3 Figure 2 Chromatograms of the proband (A) and the unaffected mother (B). The chromatograms reveal a deletion of an adenine nucleotide, c.1126_1127delA, in exon 9, resulting in a frameshift of the reading frame of the voltage-gated sensor Kv7.2 potassium channel. Pediatric Neurology  , 63-66DOI: ( /j.pediatrneurol ) Copyright © 2013 Elsevier Inc. Terms and Conditions


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