Ohtahara syndrome

Common Name(s)

Ohtahara syndrome

Ohtahara syndrome is a neurological disorder characterized by seizures.  The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures.  Infants have primarily tonic seizures (which cause stiffening of muscles of the body, generally those in the back, legs, and arms), but may also experience partial seizures, and rarely, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs). Ohtahara syndrome is most commonly caused by metabolic disorders or structural damage in the brain, although the cause or causes for many cases canÕt be determined. Most infants with the disorder show significant underdevelopment of part or all of the cerebral hemispheres.  The EEGs of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage spike wave discharge followed by little activity.  This pattern is known as Òburst suppression.Ó The seizures associated with Ohtahara syndrome are difficult to treat and the syndrome is severely progressive. Some children with this condition go on to develop other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome.  
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Aaron's Ohtahara

We offer hope to families with any child who has been diagnosed with Ohtahara Syndrome. We strive to accomplish this through support, research, education, and awareness.

Last Updated: 12 Oct 2013

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Aaron's Ohtahara

We offer hope to families with any child who has been diagnosed with Ohtahara Syndrome. We strive to accomplish this through support, research, education, and awareness.

http://www.ohtahara.org

Last Updated: 12 Oct 2013

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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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 "Ohtahara syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.
 

Author(s): Marlin Touma, Mugdha Joshi, Meghan C Connolly, P Ellen Grant, Anne R Hansen, Omar Khwaja, Gerard T Berry, Hannah C Kinney, Annapurna Poduri, Pankaj B Agrawal

Journal: Epilepsia. 2013 May;54(5):e81-5.

 

Mutations in SCN2A gene cause a variety of epilepsy syndromes. We report a novel SCN2A-associated epilepsy phenotype in monozygotic twins with tonic seizures soon after birth and a suppression-burst electroencephalography (EEG) pattern. We reviewed the medical records, EEG tracings, ...

Last Updated: 29 Apr 2013

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Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).
 

Author(s): Tod Fullston, Louise Brueton, Tracey Willis, Sunny Philip, Lesley MacPherson, Merran Finnis, Jozef Gecz, Jenny Morton

Journal: Eur. J. Hum. Genet.. 2010 Feb;18(2):157-62.

 

Aristaless-related homeobox (ARX) gene mutations cause a diverse spectrum of disorders of the human brain, including lissencephaly, various forms of epilepsy and non-syndromic mental retardation. We have identified a novel mutation, c.81C>G (p.Y27X), within the ARX gene in a family ...

Last Updated: 15 Jan 2010

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Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases.
 

Author(s): Halisson Bastos, Paula Fabiana Sobral da Silva, Marco Antônio Veloso de Albuquerque, Adriana Mattos, Rudimar Santos Riesgo, Lygia Ohlweiler, Maria Isabel Bragatti Winckler, José Augusto Bragatti, Rodrigo Dias Duarte, Denise Isabel Zandoná

Journal: Seizure. 2008 Jun;17(4):378-82.

 

The authors report two cases of Brazilian children with most of the common syndromic features of Proteus syndrome, such as asymmetric overgrowth of tissues, skin abnormalities, hypotonia and mental retardation. In both patients, a refractory epilepsy, compatible with Ohtahara syndrome, ...

Last Updated: 9 May 2008

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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 "Ohtahara syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy.
 

Author(s): Jules C Beal, Koshi Cherian, Solomon L Moshe

Journal: Pediatr. Neurol.. 2012 Nov;47(5):317-23.

 

Ohtahara syndrome and early myoclonic encephalopathy are the earliest presenting of the epileptic encephalopathies. They are typically distinguished from each other according to specific clinical and etiologic criteria. Nonetheless, considerable overlap exists between the two syndromes ...

Last Updated: 9 Oct 2012

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Symptoms, Diagnosis, and Treatment

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

Genetics of Severe Early Onset Epilepsies
 

Status: Recruiting

Condition Summary: Epilepsy; Epileptic Encephalopathy; Ohtahara Syndrome; Infantile Spasms; Dravet Syndrome; Malignant Migrating Partial Epilepsy of Infancy; Early Myoclonic Epileptic Encephalopathy

 

Last Updated: 2 Apr 2014

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