MEDITERRANEAN MYOCLONIC EPILEPSY
\mˌɛdɪtɪɹˈe͡ɪni͡ən mˌa͡ɪəklˈɒnɪk ˈɛpɪlˌɛpsi], \mˌɛdɪtɪɹˈeɪniən mˌaɪəklˈɒnɪk ˈɛpɪlˌɛpsi], \m_ˌɛ_d_ɪ_t_ɪ_ɹ_ˈeɪ_n_iə_n m_ˌaɪ_ə_k_l_ˈɒ_n_ɪ_k ˈɛ_p_ɪ_l_ˌɛ_p_s_i]\
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An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, dysarthria, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland. (From Menkes, Textbook of Child Neurology, 5th ed, pp109-110)
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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.