Pedigree analysis in families with febrile seizures

William Johnson, Steven L. Kugler, E. Scot Stenroos, Marc C. Meulener, Inciya Rangwalla, Trevor W. Johnson, David E. Mandelbaum

Research output: Contribution to journalArticle

58 Citations (Scopus)

Abstract

Febrile seizures are the most common form of seizures, occurring in an estimated 2-5% of North American children. We carried out a systematic pedigree study of febrile seizure probands. Forty of 52 probands (77%) in a referral population selected for increased severity had more than one case per family: one family had 10 cases, one family had 7, 3 families had 6, 2 had 5, 3 had 4, 13 had 3, and 17 had 2 cases. Mode of inheritance in the multicase families best fit the hypothesis of autosomal dominance with reduced penetrance. Polygenic inheritance could not be excluded for some of the smaller families. There was no support for X-linked or mitochondrial inheritance. Penetrance was calculated to be 0.64. Because the cases were selected for increased severity, this represents a useful estimate of the upper limit of penetrance and is in agreement with twin studies. Simulated lod scores showed adequate power for a linkage study in the absence of heterogeneity. Individual families had simulated average lod scores as high as 2.1. However, with potential heterogeneity, assuming only 70% of families share the same disease locus, average lod scores were marginal, and a high density map of marker loci and additional families would be required to document linkage.

Original languageEnglish (US)
Pages (from-to)345-352
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume61
Issue number4
DOIs
StatePublished - Feb 2 1996

Fingerprint

Febrile Seizures
Pedigree
Lod Score
Penetrance
Multifactorial Inheritance
X-Linked Genes
Twin Studies
Mitochondrial Genes
Seizures
Referral and Consultation

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Johnson, W., Kugler, S. L., Stenroos, E. S., Meulener, M. C., Rangwalla, I., Johnson, T. W., & Mandelbaum, D. E. (1996). Pedigree analysis in families with febrile seizures. American Journal of Medical Genetics, 61(4), 345-352. https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<345::AID-AJMG8>3.0.CO;2-T
Johnson, William ; Kugler, Steven L. ; Stenroos, E. Scot ; Meulener, Marc C. ; Rangwalla, Inciya ; Johnson, Trevor W. ; Mandelbaum, David E. / Pedigree analysis in families with febrile seizures. In: American Journal of Medical Genetics. 1996 ; Vol. 61, No. 4. pp. 345-352.
@article{bf3a5a6c1d6d41349d022a380491a47b,
title = "Pedigree analysis in families with febrile seizures",
abstract = "Febrile seizures are the most common form of seizures, occurring in an estimated 2-5{\%} of North American children. We carried out a systematic pedigree study of febrile seizure probands. Forty of 52 probands (77{\%}) in a referral population selected for increased severity had more than one case per family: one family had 10 cases, one family had 7, 3 families had 6, 2 had 5, 3 had 4, 13 had 3, and 17 had 2 cases. Mode of inheritance in the multicase families best fit the hypothesis of autosomal dominance with reduced penetrance. Polygenic inheritance could not be excluded for some of the smaller families. There was no support for X-linked or mitochondrial inheritance. Penetrance was calculated to be 0.64. Because the cases were selected for increased severity, this represents a useful estimate of the upper limit of penetrance and is in agreement with twin studies. Simulated lod scores showed adequate power for a linkage study in the absence of heterogeneity. Individual families had simulated average lod scores as high as 2.1. However, with potential heterogeneity, assuming only 70{\%} of families share the same disease locus, average lod scores were marginal, and a high density map of marker loci and additional families would be required to document linkage.",
author = "William Johnson and Kugler, {Steven L.} and Stenroos, {E. Scot} and Meulener, {Marc C.} and Inciya Rangwalla and Johnson, {Trevor W.} and Mandelbaum, {David E.}",
year = "1996",
month = "2",
day = "2",
doi = "10.1002/(SICI)1096-8628(19960202)61:4<345::AID-AJMG8>3.0.CO;2-T",
language = "English (US)",
volume = "61",
pages = "345--352",
journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",
issn = "1552-4868",
publisher = "Wiley-Liss Inc.",
number = "4",

}

Johnson, W, Kugler, SL, Stenroos, ES, Meulener, MC, Rangwalla, I, Johnson, TW & Mandelbaum, DE 1996, 'Pedigree analysis in families with febrile seizures', American Journal of Medical Genetics, vol. 61, no. 4, pp. 345-352. https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<345::AID-AJMG8>3.0.CO;2-T

Pedigree analysis in families with febrile seizures. / Johnson, William; Kugler, Steven L.; Stenroos, E. Scot; Meulener, Marc C.; Rangwalla, Inciya; Johnson, Trevor W.; Mandelbaum, David E.

In: American Journal of Medical Genetics, Vol. 61, No. 4, 02.02.1996, p. 345-352.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Pedigree analysis in families with febrile seizures

AU - Johnson, William

AU - Kugler, Steven L.

AU - Stenroos, E. Scot

AU - Meulener, Marc C.

AU - Rangwalla, Inciya

AU - Johnson, Trevor W.

AU - Mandelbaum, David E.

PY - 1996/2/2

Y1 - 1996/2/2

N2 - Febrile seizures are the most common form of seizures, occurring in an estimated 2-5% of North American children. We carried out a systematic pedigree study of febrile seizure probands. Forty of 52 probands (77%) in a referral population selected for increased severity had more than one case per family: one family had 10 cases, one family had 7, 3 families had 6, 2 had 5, 3 had 4, 13 had 3, and 17 had 2 cases. Mode of inheritance in the multicase families best fit the hypothesis of autosomal dominance with reduced penetrance. Polygenic inheritance could not be excluded for some of the smaller families. There was no support for X-linked or mitochondrial inheritance. Penetrance was calculated to be 0.64. Because the cases were selected for increased severity, this represents a useful estimate of the upper limit of penetrance and is in agreement with twin studies. Simulated lod scores showed adequate power for a linkage study in the absence of heterogeneity. Individual families had simulated average lod scores as high as 2.1. However, with potential heterogeneity, assuming only 70% of families share the same disease locus, average lod scores were marginal, and a high density map of marker loci and additional families would be required to document linkage.

AB - Febrile seizures are the most common form of seizures, occurring in an estimated 2-5% of North American children. We carried out a systematic pedigree study of febrile seizure probands. Forty of 52 probands (77%) in a referral population selected for increased severity had more than one case per family: one family had 10 cases, one family had 7, 3 families had 6, 2 had 5, 3 had 4, 13 had 3, and 17 had 2 cases. Mode of inheritance in the multicase families best fit the hypothesis of autosomal dominance with reduced penetrance. Polygenic inheritance could not be excluded for some of the smaller families. There was no support for X-linked or mitochondrial inheritance. Penetrance was calculated to be 0.64. Because the cases were selected for increased severity, this represents a useful estimate of the upper limit of penetrance and is in agreement with twin studies. Simulated lod scores showed adequate power for a linkage study in the absence of heterogeneity. Individual families had simulated average lod scores as high as 2.1. However, with potential heterogeneity, assuming only 70% of families share the same disease locus, average lod scores were marginal, and a high density map of marker loci and additional families would be required to document linkage.

UR - http://www.scopus.com/inward/record.url?scp=0030044668&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030044668&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1096-8628(19960202)61:4<345::AID-AJMG8>3.0.CO;2-T

DO - 10.1002/(SICI)1096-8628(19960202)61:4<345::AID-AJMG8>3.0.CO;2-T

M3 - Article

C2 - 8834046

AN - SCOPUS:0030044668

VL - 61

SP - 345

EP - 352

JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

SN - 1552-4868

IS - 4

ER -