Mental retardation epilepsy

Common Name(s)

Mental retardation epilepsy

Mental Retardation epilepsy refers to a form of intellectual disability that is characterized mainly by below-average mental ability, and sudden periods of continuous shaking of the entire body, seizures. These seizures are caused by a condition called epilepsy. These periods of continuous shaking can be brief and undetectable or extremely obvious and uncontrollable. Females are more prone to have both intellectual disability and epileptic symptoms. Individuals with this form of intellectual disability often will have trouble concentrating on tasks. Like other individuals with intellectual disability, an individual with this condition often has problems with reasoning and solving problems, as well as performing day-to-day tasks. The condition is also often diagnosed during childhood. Doctors diagnose this form of intellectual disability if frequent body shaking is observed. Signs like walking and talking late, slow mastering of basic tasks, and having difficulty remembering things may also suggest this condition in children. Treatment is based on a case-by-case basis and depends on the specific needs of the patient. Brain specialists, neurologists, can provide treatment for the seizures and epileptic symptoms. Treatments include various drugs targeting nerve cells, brain surgery, directly stimulating nerve cells, and changes to one's diet. Doctors seek help from various therapists and community services to provide support and care for families affected by intellectual disability.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mental retardation epilepsy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Mental retardation epilepsy" returned 32 free, full-text research articles on human participants. First 3 results:

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
 

Author(s): Martial Mallaret, Matthis Synofzik, Jaeho Lee, Cari A Sagum, Muhammad Mahajnah, Rajech Sharkia, Nathalie Drouot, Mathilde Renaud, Fabrice A C Klein, Mathieu Anheim, Christine Tranchant, Cyril Mignot, Jean-Louis Mandel, Mark Bedford, Peter Bauer, Mustafa A Salih, Rebecca Schüle, Ludger Schöls, C Marcelo Aldaz, Michel Koenig

Journal: Brain. 2014 Feb;137(Pt 2):411-9.

 

We previously localized a new form of recessive ataxia with generalized tonic-clonic epilepsy and mental retardation to a 19 Mb interval in 16q21-q23 by homozygosity mapping of a large consanguineous Saudi Arabian family. We now report the identification by whole exome sequencing ...

Last Updated: 6 Feb 2014

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Cryptic chromosome rearrangements in five patients, with normal and/or abnormal karyotypes, associated with mental retardation, autism and/or epilepsy, detected by BAC genome array-CGH.
 

Author(s): V Cabras, A Milia, C Montaldo, A Nucaro

Journal: Prague Med Rep. 2012 ;113(4):279-88.

 

This report describes the usefulness of the BAC genome array-CGH platform in the detection of cryptic rearrangements. We examined ten patients with normal and/or abnormal karyotypes and dysmorphic features, associated with mental retardation, autism and/or epilepsy. This approach ...

Last Updated: 19 Dec 2012

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Hypertrichosis, gingival hypertrophia, epilepsy and mental retardation: a separate entity?
 

Author(s): Amani Landoulsi, R Ben Salah, W Bayouth, H Fodha, I Zairi, A Adouani, A Nefzi

Journal: Tunis Med. 2012 Oct;90(10):746-8.

 

Last Updated: 25 Oct 2012

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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 "Mental retardation epilepsy" returned 2 free, full-text review articles on human participants. First 3 results:

[X-chromosome-linked ichthyosis associated to epilepsy, hyperactivity, autism and mental retardation, due to the Xp22.31 microdeletion].
 

Author(s): M Carmen Carrascosa-Romero, Javier Suela, Blanca Alfaro-Ponce, Antonio J Cepillo-Boluda

Journal: Rev Neurol. 2012 Feb;54(4):241-8.

 

X-chromosome-linked ichthyosis is caused by mutation or deletion of the STS gene associated with a deficiency of the enzyme steroid sulphatase, located in the distal part of the short arm of the X chromosome (Xp22.3-pter), close to the pseudo-autosomal region. Depending on its size, ...

Last Updated: 8 Feb 2012

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Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.
 

Author(s): Carsten Bergmann, Klaus Zerres, Jan Senderek, Sabine Rudnik-Schoneborn, Thomas Eggermann, Martin Häusler, Michael Mull, Vincent T Ramaekers

Journal: Brain. 2003 Jul;126(Pt 7):1537-44.

 

We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers affected by a recognizable pattern of clinical and neuroradiological hallmarks. The distinctive phenotype comprised moderate to severe mental retardation, myoclonic-astatic epilepsy, ataxia, strabismus ...

Last Updated: 23 Jun 2003

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 10 Aug 2009

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Brain Development Research Program
 

Status: Recruiting

Condition Summary: Brain Disorders; Aicardi Syndrome

 

Last Updated: 14 Jan 2015

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