Genetic attribution and perceived impact of epilepsy in multiplex epilepsy families

Garofalo, Diana C.; Sorge, Shawn T.; Hesdorffer, Dale C.; Winawer, Melodie R.; Phelan, Jo C.; Chung, Wendy K.; Ottman, Ruth

doi:10.1111/epi.16352

Cited by 4 publications

(9 citation statements)

References 28 publications

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“…As previously reported, self-reports of epilepsy agreed very well (kappa = .86) with diagnoses of epilepsy in the genetic study, which were based on comprehensive collection of clinical data. 19 Among 186 participants who self-reported epilepsy in the current survey, 18 were not previously classified as having epilepsy. Seven of these had new onset of epilepsy since our previous contact with them, and the remaining 11 had had febrile seizures or other events that led them to perceive they had epilepsy and thus to self-report epilepsy in the current study.…”

Section: History Of Epilepsymentioning

confidence: 94%

“…Participants with epilepsy answered an additional question asking how much they believed genetics had influenced their risk of developing epilepsy (none, some, strong). We created a scale variable by averaging the responses to the three questions (Cronbach alpha = .77 among persons with epilepsy) 19 . The scale was not normally distributed; hence, scale values were categorized as high (3), moderate (2–2.9), or low (<2) for analysis.…”

Section: Methodsmentioning

confidence: 99%

“…All participants were asked to indicate whether they had ever had clinical genetic testing for any condition, and if so, for what reason, where it was done, and what results they received. As previously described, 19,24 three questions were used to evaluate genetic causal attribution of epilepsy, that is, the extent to which participants believed epilepsy to be caused by genetics. All participants answered two questions asking their opinion on the role of genetics in causing epilepsy in their family (no/small, medium, big) and their opinion on their chance of having an epilepsy-related mutation (no/ small, moderate, high).…”

Section: Genetics and Genetic Attributionmentioning

confidence: 99%

“…We created a scale variable by averaging the responses to the three questions (Cronbach alpha = .77 among persons with epilepsy). 19 The scale was not normally distributed; hence, scale values were categorized as high (3), moderate (2-2.9), or low (<2) for analysis.…”

Section: Genetics and Genetic Attributionmentioning

confidence: 99%

“…This study sample provides unique insight because of the participants' prior participation in genetic research and strong belief in a genetic origin of their epilepsy. Previous research within these families has shown an association of genetic attribution with the psychosocial impacts of epilepsy 18,19 and highlighted the importance of reproductive concerns in considering the potential impacts of genetic testing. 20 In this paper, we address the following questions:…”

Section: Introductionmentioning

confidence: 99%

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Reproductive decision‐making in families containing multiple individuals with epilepsy

et al. 2021

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This study evaluated factors influencing reproductive decision-making in families containing multiple individuals with epilepsy. Methods: One hundred forty-nine adults with epilepsy and 149 adult biological relatives without epilepsy from families containing multiple affected individuals completed a self-administered questionnaire. Participants answered questions regarding their belief in a genetic cause of epilepsy (genetic attribution) and estimated risk of epilepsy in offspring of an affected person. Participants rated factors for their influence on their reproductive plans, with responses ranging from "much more likely" to "much less likely" to want to have a child. Those with epilepsy were asked, "Do you think you would have wanted more (or any) children if you had not had epilepsy?" Results: Participants with epilepsy had fewer offspring than their unaffected relatives (mean = 1.2 vs. 1.9, p = .002), and this difference persisted among persons who had been married. Estimates of risk of epilepsy in offspring of an affected parent were higher among participants with epilepsy than among relatives without epilepsy (mean = 27.2 vs. 19.6, p = .002). Nineteen percent of participants with epilepsy responded that they would have wanted more children if they had not had epilepsy. Twenty-five percent of participants with epilepsy responded that "the chance of having a child with epilepsy" or "having epilepsy in your family" made them less likely to want to have a child. Having these genetic concerns was significantly associated with greater genetic attribution and estimated risk of epilepsy in offspring of an affected parent.

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Section: History Of Epilepsymentioning

confidence: 94%

Section: Methodsmentioning

confidence: 99%

Section: Genetics and Genetic Attributionmentioning

confidence: 99%

Section: Genetics and Genetic Attributionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Reproductive decision‐making in families containing multiple individuals with epilepsy

et al. 2021

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High genetic burden in 163 Chinese children with status epilepticus

Wang

et al. 2021

Seizure

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Familial KCNQ2 mutation: a psychiatric perspective

Iftimovici,

Charmet,

Desnous

et al. 2023

Psychiatric Genetics

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KCNQ2 mutations are a common cause of early-onset epileptic syndromes. They are associated with heterogeneous developmental profiles, from mild to severe cognitive and social impairments that need better characterization. We report a case of an inherited KCNQ2 mutation due to a deletion c.402delC in a heterozygous state, in the exon 3 of the KCNQ2 gene. A 5-year-old boy presented a cluster of sudden-onset generalized tonic-clonic seizures at three months of age, after an unremarkable postnatal period. Multiplex ligation-dependent probe amplification identified a familial mutation after an investigation in the family revealed that this mutation was present on the father’s side. The patient was diagnosed with autism and intellectual deficiency in a context of KCNQ2-encephalopathy. We describe his clinical features in light of current literature. This report highlights the importance of appropriate genetic counseling and psychiatric assessment in planning the medical and social follow-up of a disorder with complex socio-behavioral features.

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Genetic attribution and perceived impact of epilepsy in multiplex epilepsy families

Cited by 4 publications

References 28 publications

Reproductive decision‐making in families containing multiple individuals with epilepsy

Reproductive decision‐making in families containing multiple individuals with epilepsy

High genetic burden in 163 Chinese children with status epilepticus

Familial KCNQ2 mutation: a psychiatric perspective

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