Gene Identification in Alternating Hemiplegia

J Gordon Millichap

doi:10.15844/pedneurbriefs-26-9-5

Gene Identification in Alternating Hemiplegia

Pediatric Neurology Briefs

Volume 26 (2012): Issue 9

By: J Gordon Millichap

Open Access

|Sep 2012

Abstract

Researchers at Georg Augustus University Gottingen, Germany studied the genetics of alternating hemiplegia of childhood (AHC) in 24 patients aged 8-35 years, using whole-exome sequencing to identify de novo mutations associated with the disease.

References

Rosewich H Thiele H Ohlenbusch A Maschke U Altmüller J Frommolt P Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study Lancet Neurol 2012 Sep 11 9 764 73 10.1016/S1474-4422(12)70182-5 22850527
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Heinzen EL Swoboda KJ Hitomi Y Gurrieri F Nicole S de Vries B De novo mutations in ATP1A3 cause alternating hemiplegia of childhood Nat Genet 2012 Sep 44 9 1030 4 10.1038/ng.2358 22842232
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Saito Y Inui T Sakakibara T Sugai K Sakuma H Sasaki M Evolution of hemiplegic attacks and epileptic seizures in alternating hemiplegia of childhood Epilepsy Res 2010 Aug 90 3 248 58 10.1016/j.eplepsyres.2010.05.013 20580529
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-26-9-5 | Journal eISSN: 2166-6482

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Language: English

Page range: 69 - 69

Published on: Sep 1, 2012

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Alternating Hemiplegia of Childhood,

Disease-Associated Gene,

Emotional Stress

© 2012 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 26 (2012): Issue 9