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.

Source: Advocacy organizations associated with the condition.

 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 31 free, full-text research articles on human participants. First 3 results:

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

Go To URL
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

Go To URL
Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex.
 

Author(s): Sergiusz Jóźwiak, Katarzyna Kotulska, Dorota Domańska-Pakieła, Barbara Lojszczyk, Małgorzata Syczewska, Dariusz Chmielewski, Dorota Dunin-Wąsowicz, Tomasz Kmieć, Joanna Szymkiewicz-Dangel, Maria Kornacka, Wanda Kawalec, Dariusz Kuczyński, Julita Borkowska, Katarzyna Tomaszek, Elżbieta Jurkiewicz, Maria Respondek-Liberska

Journal: Eur. J. Paediatr. Neurol.. 2011 Sep;15(5):424-31.

 

Epilepsy appears in 70-80% of patients with tuberous sclerosis complex, most commonly in the first year of age. Early manifestation of epilepsy is associated with drug-resistant epilepsy and mental retardation in more than 80% of patients. Clinical epileptic seizures are preceded ...

Last Updated: 23 Sep 2011

Go To URL

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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

An Open Label Extension Study of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet or Lennox-Gastaut Syndromes
 

Status: Not yet recruiting

Condition Summary: Epilepsy; Dravet Syndrome; Lennox-Gastaut Syndrome

 

Last Updated: 22 Aug 2014

Go to URL