Phenotypic features of familial febrile seizures: case-control study

TY - JOUR

T1 - Phenotypic features of familial febrile seizures

T2 - case-control study

AU - Pal, Deb K

AU - Kugler, Steven L

AU - Mandelbaum, David E

AU - Durner, Martina

PY - 2003/2/11

Y1 - 2003/2/11

N2 - OBJECTIVE: To identify phenotypic features of febrile seizures that can be used to reduce heterogeneity and thereby increase power in linkage analysis.BACKGROUND: Despite exciting discoveries in several rare pedigrees, the genetic basis of common febrile seizures remains a mystery. The major drawback of studying common febrile seizure disorder is etiologic and genetic heterogeneity. A linkage sample must therefore be classified a priori on phenotypic criteria likely to reflect genetically homogeneous subgroups.METHODS: Eighty-three cases (children with one or more febrile seizure plus first-degree family history of febrile seizures) and 101 controls (children with one or more febrile seizure but no first-degree family history of febrile seizures) were compared for association of phenotypic features in an unmatched case-control design. Odds ratios were calculated using univariate and multivariate methods.RESULTS: Recurrent febrile seizures was the only phenotypic feature significantly associated with first-degree family history of febrile seizures (OR 2.1, 95% CI 1.15 to 3.88). First-degree family history and later occurrence of afebrile seizures (OR 3.47, 95% CI 0.94 to 12.78) were independently associated with recurrent febrile seizures. Complex features did not show familial aggregation.CONCLUSIONS: The authors suggest recurrent and afebrile seizures as criteria on which to subgroup a linkage sample. These subgroups will not be evident at the time of the initial febrile seizure. Meticulous and prospective collection of phenotypic and family data are recommended.

AB - OBJECTIVE: To identify phenotypic features of febrile seizures that can be used to reduce heterogeneity and thereby increase power in linkage analysis.BACKGROUND: Despite exciting discoveries in several rare pedigrees, the genetic basis of common febrile seizures remains a mystery. The major drawback of studying common febrile seizure disorder is etiologic and genetic heterogeneity. A linkage sample must therefore be classified a priori on phenotypic criteria likely to reflect genetically homogeneous subgroups.METHODS: Eighty-three cases (children with one or more febrile seizure plus first-degree family history of febrile seizures) and 101 controls (children with one or more febrile seizure but no first-degree family history of febrile seizures) were compared for association of phenotypic features in an unmatched case-control design. Odds ratios were calculated using univariate and multivariate methods.RESULTS: Recurrent febrile seizures was the only phenotypic feature significantly associated with first-degree family history of febrile seizures (OR 2.1, 95% CI 1.15 to 3.88). First-degree family history and later occurrence of afebrile seizures (OR 3.47, 95% CI 0.94 to 12.78) were independently associated with recurrent febrile seizures. Complex features did not show familial aggregation.CONCLUSIONS: The authors suggest recurrent and afebrile seizures as criteria on which to subgroup a linkage sample. These subgroups will not be evident at the time of the initial febrile seizure. Meticulous and prospective collection of phenotypic and family data are recommended.

KW - Adolescent

KW - Adult

KW - Body Temperature

KW - Case-Control Studies

KW - Child

KW - Child, Preschool

KW - Family

KW - Female

KW - Humans

KW - Infant

KW - Interviews as Topic

KW - Male

KW - Multivariate Analysis

KW - Odds Ratio

KW - Phenotype

KW - Recurrence

KW - Risk Factors

KW - Seizures, Febrile

KW - Sex Distribution

KW - United States

M3 - Article

C2 - 12578920

SN - 0028-3878

VL - 60

SP - 410

EP - 414

JO - Neurology

JF - Neurology

IS - 3

ER -