INFANTILE SEVERE MYOCLONIC EPILEPSY
\ˈɪnfəntˌa͡ɪl sɪvˈi͡ə mˌa͡ɪəklˈɒnɪk ˈɛpɪlˌɛpsi], \ˈɪnfəntˌaɪl sɪvˈiə mˌaɪəklˈɒnɪk ˈɛpɪlˌɛpsi], \ˈɪ_n_f_ə_n_t_ˌaɪ_l s_ɪ_v_ˈiə m_ˌaɪ_ə_k_l_ˈɒ_n_ɪ_k ˈɛ_p_ɪ_l_ˌɛ_p_s_i]\
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A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
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Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.