Genetic Mutations That Lead to Ohtahara Syndrome and Childhood Absence Epilepsy

Jiakang Liu; Tianxing Shao

doi:10.54097/hset.v8i.1122

Authors

Jiakang Liu
Tianxing Shao

DOI:

https://doi.org/10.54097/hset.v8i.1122

Keywords:

De novo SCN8A Mutation, Antisense Oligonucleotide, PCDH19 Mutation, Ganaloxone, Childhood Absence Epilepsy, Ohtahara syndrome, GABAA receptor, LVA calcium channels.

Abstract

Since epilepsy has become one of the biggest problems worried by the world, especially affecting thousands of children every year, many scholars have developed some therapies to try to save those families. One of the reasons why some people suffer from such illness is the genetic factors, which changes the function of the corresponding protein and causes a seizure. Among them, two representative diseases are Ohtahara syndrome and Childhood Absence Epilepsy. In the last century, as the mutated genes and the mechanisms of these two syndromes were still largely unknown, general antiepileptic drugs for them weren’t performing well in some conditions. Therefore, the demands for the mechanisms for these two diseases were increasingly higher though the complexity of human genes and genetic mutation still remains a challenging problem to the current technology. Luckily, extensive preclinical studies have shown that new drugs have promising therapeutic effects on these two syndromes. This article introduces the therapies for Ohtahara syndrome and Childhood Absence Epilepsy. There are going to collect the factors resulting from Childhood Absence Epilepsy and Ohtahara syndrome. Concluding past treatments and comparing them with the new therapies to find the medical progress in these two illnesses and whether Allopregnanolone, antisense oligonucleotides (ASOs) can help to treat Ohtahara syndrome, Zonisamide (ZSN), Levetiracetam (LEV), Topiramate (TPM) can treat Therapy-Resistant CAE.

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