Hemimegalencephaly: A Foetal Tauopathy

J Gordon Millichap

doi:10.15844/pedneurbriefs-27-2-5

Hemimegalencephaly: A Foetal Tauopathy

Pediatric Neurology Briefs

Volume 27 (2013): Issue 2

By: J Gordon Millichap

Open Access

|Feb 2013

Abstract

Researchers at University of Calgary and Alberta Children's Hospital, Canada; and University of Pennsylvania, Philadelphia studied brain resections from 3 male infants with hemimegalencephaly (HME) and refractory epilepsy.

References

Sarnat H Sarnat LF Crino P Hader W Bello-Hespinosa L Hemimegalencephaly: foetal tauopathy with mTOR hyperactivation and neuronal lipidosis Folia Neuropathologica 2012 50 4 330 45 10.5114/fn.2012.32363 23319189
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Bastos H da Silva PF de Albuquerque MA Mattos A Riesgo RS Ohlweiler L Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases Seizure 2008 Jun 17 4 378 82 10.1016/j.seizure.2007.11.001 18082431
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Opitz JM Jorde LB Hamartoma syndromes, exome sequencing, and a protean puzzle N Engl J Med 2011 Aug 18 365 7 661 3 10.1056/NEJMe1107384 21793737
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-27-2-5 | Journal eISSN: 2166-6482

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Language: English

Page range: 12 - 13

Published on: Feb 1, 2013

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Hemimegalencephaly,

Neurocutaneous Syndromes,

Proteus Syndrome

© 2013 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 27 (2013): Issue 2