From Dr. Laura Lubbers <[email protected]>
Subject Epilepsy Research News: June 2022
Date June 14, 2022 2:00 PM
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This month we highlight new research on Infantile Spasms (IS), genetics, pregnancy for those with epilepsy, and more.

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** CURE Epilepsy is dedicated to funding patient-focused research to find a cure for the 65 million people with epilepsy worldwide. This month, we share the following articles and abstracts which are furthering the study of epilepsy and bringing the world closer to a cure.
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This issue of Epilepsy Research News includes summaries of articles on:
* Underlying Cause and Treatment of Infantile Spasms (IS) Discovered ([link removed])
* Genetic Variants in Epilepsy Gene Identified ([link removed] )
* Antidepressant Use During Pregnancy Does Not Increase Changes of Epilepsy and Seizures in Infants ([link removed])
* Folic Acid Supplementation Decreases Risk of Preterm Birth in Women with Epilepsy ([link removed])

Underlying Cause and Treatment Target for Infantile Spasms (IS) Discovered ([link removed])
A study conducted in the laboratory of past CURE Epilepsy grantee Dr. John Swann has found that the levels of the hormone insulin growth factor-1 (IGF-1) are reduced in the brains of both babies with IS and animal models of IS. Furthermore, they found that the administration of an IGF-1 analog (a molecule similar to IGF-1) successfully eliminated spasms and abnormal brain activity in an IS animal model. IS is a severe epileptic syndrome of infancy that accounts for 50% of all epilepsy cases that occur in babies during the first year of life. “[We] found — to our astonishment — that administration of the IGF-1 analog successfully eliminated spasms and an IS-specific chaotic brain activity pattern called hypsarrhythmia in most IS animals,” said Dr. Swann. “We are excited because these findings raise the tantalizing possibility that this IGF-1 analog can be used to treat IS patients in the future.” To learn more about these new findings, read here
([link removed]) . To learn more about findings from the CURE Epilepsy Infantile Spasms Initiative, of which Dr. John Swann was a part, read here ([link removed]) .
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Genetic Variants in Epilepsy Gene Identified ([link removed])
Investigators at Northwestern University, including past CURE Epilepsy grantee Dr. Gemma Carvill, have discovered a new method to determine whether individual genetic variants in the epilepsy-associated gene SZT2 cause a neurodevelopmental disorder. Pathogenic (disease-causing) variants in the SZT2 gene have been associated with the development of different neurodevelopmental disorders, including early-onset epilepsy and developmental delays. However, it has remained a challenge to classify the variants as either benign (non-disease causing) or pathogenic, due in part to the large size of the SZT2 gene. For the current study, Dr. Carvill's team developed a novel individualized rapid method to identify pathogenic variants and used this method to identify pathogenic variants in five of 12 individuals with variants in the SZT2 gene whose significance (benign or pathogenic) was unknown.
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Antidepressant Use During Pregnancy Does Not Increase Chances of Epilepsy and Seizure in Infants ([link removed])
A new study suggests that antidepressant use by mothers during the first trimester of pregnancy does not increase the chances of epilepsy or seizures in their babies. The study looked at over 1.7 million children born in Sweden over a 17-year period. Researchers identified more than 24,000 children who had been exposed to antidepressants during the first trimester of pregnancy and compared them to those who were not exposed. While the authors found a higher prevalence of neonatal seizures and epilepsy among exposed children compared to unexposed children, after adjusting for factors in the mothers associated with an increase in the risk of seizures in their newborn, they found no link between antidepressant use by mothers during the first trimester and a child’s risk of seizures or epilepsy. The study’s authors state that the findings may benefit women and their doctors considering the risks and benefits of medication during pregnancy.
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Folic Acid Supplementation Decreases Risk of Preterm Birth in Women with Epilepsy ([link removed])
Findings from the Norwegian Mother and Child Cohort Study showed that among women with epilepsy on an antiseizure medication (ASM), folic acid supplementation during the weeks before and after conception was associated with a lower risk of preterm birth. There was a three-fold increase in the risk among those who did not use supplementation versus those who did. To evaluate whether folic acid supplementation was associated with primary outcomes such as preterm birth (gestational age <37 weeks at birth), the investigators evaluated 100,105 singleton pregnancies. In 764 of these pregnancies, the mother had a diagnosis of epilepsy; 316 mothers were exposed to ASMs during pregnancy and 358 were not. "Our study supports the recommendation that ASM-treated women with epilepsy with a potential to become pregnant should use [a] daily folic acid supplement," stated the authors.
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