|This condition is inherited in an X-linked recessive manner|
Ohtahara syndrome (OS), also known as early infantile epileptic encephalopathy with burst-suppression (EIEE), is a progressive epileptic encephalopathy. The syndrome is outwardly characterized by tonic spasms and partial seizures, and receives its more elaborate name from the pattern of burst activity on an electroencephalogram (EEG). It is an extremely debilitating progressive neurological disorder, involving intractable seizures and severe mental retardation. No single cause has been identified, although in many cases structural brain damage is present.
Ohtahara syndrome is rare and the earliest-appearing age-related epileptic encephalopathy, with seizure onset occurring within the first three months of life, and often in the first ten days. Many, but not all, cases of OS evolve into other seizure disorders, namely West syndrome and Lennox-Gastaut syndrome.
The primary outward manifestation of OS is seizures, usually presenting as tonic seizures (a generalized seizure involving a sudden stiffening of the limbs). Other seizure types that may occur include partial seizures, clusters of infantile spasms, and, rarely, myoclonic seizures. In addition to seizures, children with OS exhibit profound mental and physical retardation.
It is named for the Japanese neurologist Shunsuke Ohtahara (1930–2013), who identified it in 1976.
No single cause of OS has been identified. In most cases, there is severe atrophy of both hemispheres of the brain. Less often, the root of the disorder is an underlying metabolic syndrome. Although it was initially published that no genetic connection had been established, several genes have since associated with Ohtahara syndrome. It can be associated with mutations in ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, KCNQ2, ARHGEF9, PCDH19, PNKP, SCN2A, PLCB1, SCN8A, and likely others.
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Treatment outlook is poor. Anticonvulsant drugs and glucocorticoid steroids may be used to try to control the seizures, but their effectiveness is limited. Most therapies are related to symptoms and day-to-day living.
Ivan Cameron, son of David Cameron, former leader of the British Conservative Party and Prime Minister of the UK, was born with the condition and cerebral palsy. He died aged six on 25 February 2009, while his father was still opposition leader.
Dr William H. Thomas, is a United States doctor at the forefront of aged-care reform (e.g. The Eden Alternative, The Green House Project). Thomas has two daughters with this condition. He spoke about them during a PBS interview.
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- Online Mendelian Inheritance in Man (OMIM) 308350
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- Online Mendelian Inheritance in Man (OMIM) 300203
- Online Mendelian Inheritance in Man (OMIM) 609302
- Online Mendelian Inheritance in Man (OMIM) 602926
- Online Mendelian Inheritance in Man (OMIM) 182810
- Online Mendelian Inheritance in Man (OMIM) 602235
- Online Mendelian Inheritance in Man (OMIM) 300429
- Online Mendelian Inheritance in Man (OMIM) 300460
- Online Mendelian Inheritance in Man (OMIM) 605610
- Online Mendelian Inheritance in Man (OMIM) 182390
- Online Mendelian Inheritance in Man (OMIM) 607120
- Online Mendelian Inheritance in Man (OMIM) 600702
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