On the genetics of the primary generalized epilepsy with sporadic myoclonias of impulsive petit mal type

Tsuboi, Takayuki; Christian, Walter P.

doi:10.1007/bf00282192

Cited by 86 publications

(98 citation statements)

References 20 publications

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“…Most studies have yielded similar results (9,11,18,19,(54)(55)(56)(57)(58). The offspring of patients had febrile convulsions as often as did offspring of controls.…”

Section: Discussionsupporting

confidence: 55%

Reproductive Activity and Offspring Health of Young Adults with Childhood‐Onset Epilepsy: A Controlled Study

Jalava¹,

Sillanpää²

1997

Epilepsia

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Summary: Purpose: To study reproductive activity and offspring health in a prospective follow-up setting.Methods: After a 35-year follow-up of a populationbased patient cohort with childhood-onset "epilepsy only," 100 (56.8%) of 176 surviving patients were shown to have "epilepsy only", i.e., recurrent unprovoked seizures with no associated neuroimpairment. Their reproductivity and offspring health were compared with those of matched controls.Results: The marriage rate and fertility of patients with "epilepsy only" were significantly reduced as compared with those of matched controls. Continuation of antiepileptic drug (AED) treatment was significantly associated with reduced reproduction, whereas occurrence of seizures during the previous 5 years was not. The incidence of epilepsy was nine times greater among the children of patients than among those of controls. No higher risks were observed in pregnancy or delivery in patients, nor were increased rates of birth defects in their offspring than in those of contols. Exposure to AEDs during pregnancy did not increase these risks.Conclusions: Patients with "epilepsy only" since childhood have fewer marriages and fewer children than expected. However, when they marry, their pregnancies and deliveries are unremarkable and their children do not have increased congenital health problems. Obviously, etiologies causative of both epilepsy and associated neurological impairments are more harmful to the course of pregnancy and delivery and offspring health than are those resulting in "epilepsy only". Key Words: Childhood-onset epilepsy-Marriage rate-Fertility in epilepsy-Offspring health in epilepsy-Epilepsy outcome.

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“…Most studies have yielded similar results (9,11,18,19,(54)(55)(56)(57)(58). The offspring of patients had febrile convulsions as often as did offspring of controls.…”

Section: Discussionsupporting

confidence: 55%

Reproductive Activity and Offspring Health of Young Adults with Childhood‐Onset Epilepsy: A Controlled Study

Jalava¹,

Sillanpää²

1997

Epilepsia

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“…However, this is not observed. Seizure risks are approximately twice as high in offspring of affected mothers as in offspring of affected fathers (8,9,(26)(27)(28).…”

Section: Discussionmentioning

confidence: 99%

Reproduction Among Individuals with Idiopathic/Cryptogenic Epilepsy: Risk Factors for Spontaneous Abortion

Schupf

Ottman

1997

Epilepsia

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Summary: Purpose: We wished to determine the effects of seizure type, age at onset, and family history of epilepsy on risk of spontaneous abortion in the pregnancies of adults with idiopathichyptogenic epilepsy.Methods: We examined pregnancy outcomes in 812 adults with idiopathickfyptogenic epilepsy who had ever had or fathered a pregnancy and 250 of their same sex siblings who had ever had or fathered a pregnancy. We compared the likelihood of spontaneous abortion before and after onset of epilepsy with the likelihood of spontaneous abortion among same sex siblings.Results: Risk of spontaneous abortion was not increased before onset of epilepsy. After onset of epilepsy, risk of spontaneous abortion was significantly increased in the pregnancies of wives of men who had localization-related epilepsy with age at onset

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“…The observation of female disease excess is open to ascertainment bias, because of the well-known phenomenon that females use health services more than males. This is a possible shortcoming of previous epilepsy studies [19][20][21], but one that can be overcome at the study design stage, as we did below. Sex differences in epilepsy have been related to divergent anatomical patterns of development [22], and to the influence of sex-steroids on neurons [23].…”

Section: Introductionmentioning

confidence: 99%

“…Maternal inheritance has been noted in the past, in epilepsy family and epidemiological studies in general [11][12][13][14][15][16][17], as well as in family studies restricted to JME. In JME family studies, offspring of JME affected mothers show a five times higher risk of epilepsy than offspring of JME affected fathers [16,27]; and JME is more often transmitted through IGE affected mothers than through IGE affected fathers [19]. Absence seizures, e.g.…”

Section: Parent-of-origin Effect In Jmementioning

confidence: 99%

Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy

Pal

Durner

Klotz³

et al. 2006

Brain and Development

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Background-Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy (IGE) with complex inheritance. Previous studies have suggested maternal inheritance and female excess in IGEs but have not been specific for JME. We investigated evidence for maternal inheritance, female excess and patterns of familial seizure risk in a well-characterized sample of JME families.Methods-We ascertained 89 families through a JME proband and 50 families through a non-JME IGE proband. JME families were divided into those with and without evidence of linkage to the EJM1 susceptibility locus on chromosome 6. We analyzed transmission in 43 multigenerational families, calculated the adjusted sex ratio for JME, and looked for evidence of seizure specific risk in 806 family members.Results-We found evidence for preferential maternal transmission in both EJM1-linked and unlinked families (2.7:1), evidence even more marked when potential selection factors were excluded. The adjusted female: male risk ratio was very high in JME (RR=12.5; 95% CI: 1.9-83.7). Absence seizures in JME probands increased the overall risk of seizures in first degree relatives (15.8% vs. 7.0%, P=0.011), as well as first-degree relatives' specific risk of absence seizures (6% vs. 1.6%, P=0.01), but not myoclonic seizures.Conclusions-We have confirmed the finding of maternal inheritance in JME, which is not restricted to JME families linked to the EJM1 locus. The striking female excess in JME may relate to anatomical and/or endocrine sexual dimorphism in the brain. Evidence for independent inheritance of absence and myoclonic seizures in JME families reinforces a model in which combinations of loci confer susceptibility to the component seizure types of IGE.

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On the genetics of the primary generalized epilepsy with sporadic myoclonias of impulsive petit mal type

Cited by 86 publications

References 20 publications

Reproductive Activity and Offspring Health of Young Adults with Childhood‐Onset Epilepsy: A Controlled Study

Reproductive Activity and Offspring Health of Young Adults with Childhood‐Onset Epilepsy: A Controlled Study

Reproduction Among Individuals with Idiopathic/Cryptogenic Epilepsy: Risk Factors for Spontaneous Abortion

Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy

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