Neurology · Neurology / Epilepsy; Pediatric neurology
Ohtahara syndrome
also: Early infantile epileptic encephalopathy with suppression-burst (EIEE1); Ohtahara syndrome
Earliest-onset developmental and epileptic encephalopathy, with tonic spasms and a suppression-burst EEG pattern.
- Specialty
- Neurology
- Subspecialty
- Neurology / Epilepsy; Pediatric neurology
- Sex & age distribution
- Male: slightly more common (ARX X-linked); Female: affected; Children: yes, onset first 3 months
- Gene(s) involved
- ARX, BRAT1, CASK, CDKL5, GNAO1, KCNQ2, KCNT1, NECAP1, PIGA, PNKP, SCN2A, SCN8A, SLC25A22, SPTAN1, ST3GAL3, STXBP1
- Alternative names & eponyms
- Early infantile epileptic encephalopathy with suppression-burst (EIEE1); Ohtahara syndrome
Etiology & mechanism
Structural brain malformations or genetic causes disrupting synaptic or ion channel function.
Gene(s) involved (16)
Symptoms & signs (5)
In plain terms, someone with Ohtahara syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
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Shares symptoms with
None.
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