EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1

Known as: ISSX1, Ohtahara Syndrome, EIEE 
A neurological disorder characterized by recurring seizures presenting within the first three months of life and progressive cerebral dysfunction.
National Institutes of Health

Topic mentions per year

Topic mentions per year

1981-2017
051019812017

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2014
2014
In severe early-onset epilepsy, precise clinical and molecular genetic diagnosis is complex, as many metabolic and electro… (More)
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2010
2010
PURPOSE De novo STXBP1 mutations have been found in individuals with early infantile epileptic encephalopathy with suppression… (More)
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Highly Cited
2008
Highly Cited
2008
Early infantile epileptic encephalopathy with suppression-burst (EIEE), also known as Ohtahara syndrome, is one of the most… (More)
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2008
2008
Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome… (More)
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2007
Highly Cited
2007
Early infantile epileptic encephalopathy with suppression-burst pattern (EIEE) is one of the most severe and earliest forms of… (More)
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2007
2007
BACKGROUND ARX is a paired-type homeobox gene located on the X chromosome that contains five exons with four polyalanine (PolyA… (More)
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2006
2006
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome, West… (More)
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2004
2004
Recent human genetics approaches identified the Aristaless-related homeobox (ARX) gene as the causative gene in X-linked… (More)
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2003
Highly Cited
2003
X-linked West syndrome, also called "X-linked infantile spasms" (ISSX), is characterized by early-onset generalized seizures… (More)
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2000
2000
A case of early infantile epileptic encephalopathy with suppression-bursts (EIEE or Ohtahara syndrome) with an excellent response… (More)
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