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 disorders; epilepsy

(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]

PMID:14734930

Ohtahara S, Yamatogi Y

Epileptic encephalopathies in early infancy with suppression-burst.

J Clin Neurophysiol 20:398-407 (2003)

PMID:16829045

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)

PMID:11751020

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)

PMID:18469812

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)