Hemimegalencephaly

Common Name(s)

Hemimegalencephaly

Hemimegalencephaly is a rare malformation involving one side of the brain. It may occur alone or in association with epidermal nevus syndrome, Proteus syndrome, or Klippel-Trenaunay syndrome. It usually causes partial epilepsy, which may be treated with hemispherectomy. Hemimegalencephaly can also cause intellectual disability and impair normal movement on the side of the body opposite of the malformation. Symptoms range from mild to severe. The cause of this condition is not fully understood, but involves a disturbance of cells early in development and likely involves genes involved in patterning and symmetry.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemimegalencephaly" for support, advocacy or research.

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Hemispherectomy Foundation

To Encourage and Support impacted families by connecting them with other families who have had a hemispherectomy or similar surgery To Work together with medical professionals to fund research into the cause of the diseases that lead to intractable epilepsy, hemispherectomy, and the surgery itself To Raise Money for camp fees, scholarships for trade schools and higher education as well as provide financial relief for struggling families

Last Updated: 19 Feb 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemimegalencephaly" for support, advocacy or research.

Logo
Hemispherectomy Foundation

To Encourage and Support impacted families by connecting them with other families who have had a hemispherectomy or similar surgery To Work together with medical professionals to fund research into the cause of the diseases that lead to intractable epilepsy, hemispherectomy, and the surgery itself To Raise Money for camp fees, scholarships for trade schools and higher education as well as provide financial relief for struggling families

http://hemifoundation.intuitwebsites.com/welcome.html

Last Updated: 19 Feb 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hemimegalencephaly" returned 29 free, full-text research articles on human participants. First 3 results:

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.
 

Author(s): Alissa M D'Gama, Ying Geng, Javier A Couto, Beth Martin, Evan A Boyle, Christopher M LaCoursiere, Amer Hossain, Nicole E Hatem, Brenda J Barry, David J Kwiatkowski, Harry V Vinters, A James Barkovich, Jay Shendure, Gary W Mathern, Christopher A Walsh, Annapurna Poduri

Journal: Ann. Neurol.. 2015 Apr;77(4):720-5.

 

Focal malformations of cortical development, including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are important causes of intractable childhood epilepsy. Using targeted and exome sequencing on DNA from resected brain samples and nonbrain samples from 53 patients ...

Last Updated: 26 Mar 2015

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Happle-Tinschert syndrome: report of a case with hemimegalencephaly.
 

Author(s): Anıl Özgur, Gonca Çabuk, Rabia Arpacı, Kıymet Baz, Demet Katar

Journal: Korean J Radiol. ;15(4):534-7.

 

Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this ...

Last Updated: 23 Jul 2014

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Hemimegalencephaly: what happens when children get older?
 

Author(s): Nicky Wu, Felippe Borlot, Anfal Ali, Timo Krings, Danielle M Andrade

Journal: Dev Med Child Neurol. 2014 Sep;56(9):905-9.

 

Hemimegalencephaly (HME) is a rare congenital malformation of cortical development, usually associated with developmental delay and severe epilepsy. This condition has rarely been reported in adults. The aim of this study was to examine and compare neurological findings in adult patients with HME.

Last Updated: 12 Aug 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hemimegalencephaly" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.