Ohtahara syndrome

Common Name(s)

Ohtahara syndrome

Ohtahara syndrome, also known as Early Infantile Epileptic Encephalopathy with Burst Suppression (EIEE), is a rare disorder that causes seizures in newborns, typically within the first three months of life. A baby with this condition may experience tonic seizures (seizure in which limbs suddenly stiffen), partial seizures (seizure that affects one side of the brain), and occasionally myoclonic seizures (seizure that causes short, jerk like movements). Many babies and children with this condition also experience delays in reaching developmental milestones, such as rolling over, walking and talking. Additionally, babies may be unusually sleepy, have difficulty feeding, and remain dependent on others. Ohtahara syndrome is considered a progressive condition, meaning the symptoms get worse over time.

The cause of this condition is unknown. However, many cases of Ohtahara syndrome are seen in babies and children with significant underdevelopment of part of the brain (atrophy). Mutations in many different genes have been identified as the cause in some cases of the condition. In order to diagnose this condition, the doctor will perform a physical exam and gather a detailed history of the child’s seizures. Since seizures are caused by abnormal electrical activity in the brain, an electroencephalogram (EEG) test will be used to measure the brain’s electrical activity. Typically, individuals with Ohtahara syndrome show high voltage spikes followed by little brain activity (known as burst suppression) on an EEG. Treatment options are often limited because the seizures are often resistant to anti-epilepsy medication. In some cases, surgery or therapies may be an option. This is a very serious condition and, if your child has this diagnosis, it is helpful to speak with a doctor or therapist to gain additional information and support.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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: 24 Apr 2015

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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: 24 Apr 2015

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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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 "Ohtahara syndrome" returned 14 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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CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
 

Author(s): Hirotomo Saitsu, Mitsuhiro Kato, Hitoshi Osaka, Nobuko Moriyama, Hideki Horita, Kiyomi Nishiyama, Yuriko Yoneda, Yukiko Kondo, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kiyoshi Hayasaka, Naomichi Matsumoto

Journal: Epilepsia. 2012 Aug;53(8):1441-9.

 

Ohtahara syndrome (OS) is one of the most severe and earliest forms of epilepsy. STXBP1 and ARX mutations have been reported in patients with OS. In this study, we aimed to identify new genes involved in OS by copy number analysis and whole exome sequencing.

Last Updated: 13 Aug 2012

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A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.
 

Author(s): Yaman Z Ekşioğlu, Amanda W Pong, Masanori Takeoka

Journal: Epilepsia. 2011 May;52(5):984-92.

 

ARX, the aristaless-related homeobox gene, is implicated in cerebral, testicular, and pancreatic development. ARX mutations are associated with various forms of epilepsy, developmental delay, and ambiguous genitalia in humans. A mouse model that recapitulates X-linked lissencephaly ...

Last Updated: 12 May 2011

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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 Feb 2015

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