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H00606                      Disease                                

Early infantile epileptic encephalopathy;
Ohtahara syndrome
Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara syndrome,is characterized by frequent tonic spasms of early onset within a few months of life, and a suppression-burst pattern in electroencephalography (EEG). Many causes have been considered for EIEE. It has been reported that 75% of the cases subsequently evolve to West syndrome, and later a much smaller number progress to Lennox-Gastaut syndrome.
Congenital disorder; Epilepsy
Human diseases [BR:br08402]
 Other congenital disorders
   H00606  Early infantile epileptic encephalopathy
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G40-G47  Episodic and paroxysmal disorders
   G40  Epilepsy and recurrent seizures
    H00606  Early infantile epileptic encephalopathy
BRITE hierarchy
Tight junction
Gap junction
Synaptic vesicle cycle
Cholinergic synapse
(EIEE1) ARX [HSA:170302] [KO:K09452]
(EIEE2) CDKL5 [HSA:6792] [KO:K08824]
(EIEE3) SLC25A22 [HSA:79751] [KO:K15107]
(EIEE4) STXBP1 [HSA:6812] [KO:K15292]
(EIEE5) SPTAN1 [HSA:6709] [KO:K06114]
(EIEE7) KCNQ2 [HSA:3785] [KO:K04927]
(EIEE8) ARHGEF9 [HSA:23229]
(EIEE9) PCDH19 [HSA:57526] [KO:K16499]
(EIEE10) PNKP [HSA:11284] [KO:K08073]
(EIEE11) SCN2A1 [HSA:6326] [KO:K04834]
(EIEE12) PLCB1 [HSA:23236] [KO:K05858]
(Lennox-Gastaut type) MAPK10 [HSA:5602] [KO:K04440]
Other DBs
Ohtahara S, Yamatogi Y
Epileptic encephalopathies in early infancy with suppression-burst.
J Clin Neurophysiol 20:398-407 (2003)
Ohtahara S, Yamatogi Y
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.
Epilepsy Res 70 Suppl 1:S58-67 (2006)
Yamatogi Y, Ohtahara S
Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases.
Brain Dev 24:13-23 (2002)
Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
Nat Genet 40:782-8 (2008)

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