Developmental and Epileptic Encephalopathy 7 (DEE7)

Developmental and Epileptic Encephalopathy 7(来自ICD-11)
别称:
Epileptic Encephalopathy, Early Infantile, 7
Kcnq2-Related Neonatal Epileptic Encephalopathy
Kcnq2-Related Epileptic Encephalopathy
Developmental and Epileptic Encephalopathy, 7
Kcnq2-Nee
Eiee7
Dee7
Early Infantile Epileptic Encephalopathy with Suppression Bursts
Encephalopathy, Epileptic, Early Infantile, Type 7
Early Infantile Epileptic Encephalopathy 7
Ohtahara Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
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References Literature
Developmental and Epileptic Encephalopathy 7, also known as epileptic encephalopathy, early infantile, 7, is related to developmental and epileptic encephalopathy 1 and early infantile epileptic encephalopathy, and has symptoms including tonic seizures An important gene associated with Developmental and Epileptic Encephalopathy 7 is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include brain and globus pallidus, and related phenotypes are intellectual disability and global developmental delay
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参考文献
MALACARDS
AD
Newborn
<1/1000000
10
109
44

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靶点药物

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MGI
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