A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)

Author:

Kato Mitsuhiro,Saitoh Shinji,Kamei Atsushi,Shiraishi Hideaki,Ueda Yuki,Akasaka Manami,Tohyama Jun,Akasaka Noriyuki,Hayasaka Kiyoshi

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. [On the specific age dependent epileptic syndrome: the early-infantile epileptic encephalopathy with suppression-burst.];Ohtahara;No to Hattatsu,1976

2. Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy;Ohtahara;Epilepsy Res Suppl,2006

3. [Therapeutic effect of ACTH and gamma-globulin in 8 cases with the early-infantile epileptic encephalopathy with suppression-burst (EIEE).];Miyake;Shonika Rinsho (Tokyo),1987

4. Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases;Yamatogi;Brain Dev,2002

5. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy;Stromme;Nat Genet,2002

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