Ohtahara syndrome

Also known as: 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.

Medical 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

Etiology & mechanism

Structural brain malformations or genetic causes disrupting synaptic or ion channel function.

Gene(s) involved (16)

ARXBRAT1CASKCDKL5GNAO1KCNQ2KCNT1NECAP1PIGAPNKPSCN2ASCN8ASLC25A22SPTAN1ST3GAL3STXBP1

Symptoms & signs (5)

evolution to west syndromerefractory seizuressevere developmental impairmentsuppression-burst eegtonic spasms

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