Ereditarietà e fenotipo clinico in 16 famiglie con convulsioni infantili familiari benigne (BFIS)

P. Striano; M. L. Lispi; E. Gennaro; F. Madia; A. Bianchi; F. Zara; B. Barone; B. Dalla Bernardina; G. Capovilla; P. De Marco; R. Gaggero; A. Gambardella; R. Nabbout; F. Vanadia; M. Vecchi; P. Veggiotti; F. Vigevano; M. Viri

Ereditarietà e fenotipo clinico in 16 famiglie con convulsioni infantili familiari benigne (BFIS)

Translated title of the contribution: Linkage analysis and disease models in benign familial infantile seizures (BFIS): A study of 16 families

P. Striano, M. L. Lispi, E. Gennaro, F. Madia, A. Bianchi, F. Zara, B. Barone, B. Dalla Bernardina, G. Capovilla, P. De Marco, R. Gaggero, A. Gambardella, R. Nabbout, F. Vanadia, M. Vecchi, P. Veggiotti, F. Vigevano, M. Viri

Research output: Contribution to journal › Article › peer-review

Abstract

Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition with loci identified on chromosomes 19q12-13.1 and 16p12-q12. We examined sixteen Italian BFIS pedigrees. Families with SCN2A or ATP1A2 mutations were excluded. Chromosome 16p and 19q loci were examined by linkage analysis using two models that differed in penetrance rate. Genetic heterogeneity was evaluated with both models. Clinical information was available for 124 members of affected families. BFIS was diagnosed in 69 subjects. Evidence of linkage was obtained only for chromosome 16. Moreover, the high penetrance allowed the identification of genetic heterogeneity. Our data confirm the relevance of the chromosome 16 locus in BFIS and show that the genetic model used affects the outcome of linkage analysis.

Translated title of the contribution	Linkage analysis and disease models in benign familial infantile seizures (BFIS): A study of 16 families
Original language	Italian
Pages (from-to)	81-84
Number of pages	4
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	129-130
Publication status	Published - 2005

ASJC Scopus subject areas

Clinical Neurology

Cite this

Striano, P., Lispi, M. L., Gennaro, E., Madia, F., Bianchi, A., Zara, F., Barone, B., Dalla Bernardina, B., Capovilla, G., De Marco, P., Gaggero, R., Gambardella, A., Nabbout, R., Vanadia, F., Vecchi, M., Veggiotti, P., Vigevano, F., & Viri, M. (2005). Ereditarietà e fenotipo clinico in 16 famiglie con convulsioni infantili familiari benigne (BFIS). Bollettino - Lega Italiana contro l'Epilessia, (129-130), 81-84.

Striano, P, Lispi, ML, Gennaro, E, Madia, F, Bianchi, A, Zara, F, Barone, B, Dalla Bernardina, B, Capovilla, G, De Marco, P, Gaggero, R, Gambardella, A, Nabbout, R, Vanadia, F, Vecchi, M, Veggiotti, P, Vigevano, F & Viri, M 2005, 'Ereditarietà e fenotipo clinico in 16 famiglie con convulsioni infantili familiari benigne (BFIS)', Bollettino - Lega Italiana contro l'Epilessia, no. 129-130, pp. 81-84.

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title = "Ereditariet{\`a} e fenotipo clinico in 16 famiglie con convulsioni infantili familiari benigne (BFIS)",

abstract = "Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition with loci identified on chromosomes 19q12-13.1 and 16p12-q12. We examined sixteen Italian BFIS pedigrees. Families with SCN2A or ATP1A2 mutations were excluded. Chromosome 16p and 19q loci were examined by linkage analysis using two models that differed in penetrance rate. Genetic heterogeneity was evaluated with both models. Clinical information was available for 124 members of affected families. BFIS was diagnosed in 69 subjects. Evidence of linkage was obtained only for chromosome 16. Moreover, the high penetrance allowed the identification of genetic heterogeneity. Our data confirm the relevance of the chromosome 16 locus in BFIS and show that the genetic model used affects the outcome of linkage analysis.",

keywords = "BFIS, Infantile seizures, Linkage analysis, Paroxysmal choreoathetosis",

author = "P. Striano and Lispi, {M. L.} and E. Gennaro and F. Madia and A. Bianchi and F. Zara and B. Barone and {Dalla Bernardina}, B. and G. Capovilla and {De Marco}, P. and R. Gaggero and A. Gambardella and R. Nabbout and F. Vanadia and M. Vecchi and P. Veggiotti and F. Vigevano and M. Viri",

year = "2005",

language = "Italian",

pages = "81--84",

journal = "Bollettino - Lega Italiana contro l'Epilessia",

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T1 - Ereditarietà e fenotipo clinico in 16 famiglie con convulsioni infantili familiari benigne (BFIS)

AU - Striano, P.

AU - Lispi, M. L.

AU - Gennaro, E.

AU - Madia, F.

AU - Bianchi, A.

AU - Zara, F.

AU - Barone, B.

AU - Dalla Bernardina, B.

AU - Capovilla, G.

AU - De Marco, P.

AU - Gaggero, R.

AU - Gambardella, A.

AU - Nabbout, R.

AU - Vanadia, F.

AU - Vecchi, M.

AU - Veggiotti, P.

AU - Vigevano, F.

AU - Viri, M.

PY - 2005

Y1 - 2005

N2 - Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition with loci identified on chromosomes 19q12-13.1 and 16p12-q12. We examined sixteen Italian BFIS pedigrees. Families with SCN2A or ATP1A2 mutations were excluded. Chromosome 16p and 19q loci were examined by linkage analysis using two models that differed in penetrance rate. Genetic heterogeneity was evaluated with both models. Clinical information was available for 124 members of affected families. BFIS was diagnosed in 69 subjects. Evidence of linkage was obtained only for chromosome 16. Moreover, the high penetrance allowed the identification of genetic heterogeneity. Our data confirm the relevance of the chromosome 16 locus in BFIS and show that the genetic model used affects the outcome of linkage analysis.

AB - Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition with loci identified on chromosomes 19q12-13.1 and 16p12-q12. We examined sixteen Italian BFIS pedigrees. Families with SCN2A or ATP1A2 mutations were excluded. Chromosome 16p and 19q loci were examined by linkage analysis using two models that differed in penetrance rate. Genetic heterogeneity was evaluated with both models. Clinical information was available for 124 members of affected families. BFIS was diagnosed in 69 subjects. Evidence of linkage was obtained only for chromosome 16. Moreover, the high penetrance allowed the identification of genetic heterogeneity. Our data confirm the relevance of the chromosome 16 locus in BFIS and show that the genetic model used affects the outcome of linkage analysis.

KW - BFIS

KW - Infantile seizures

KW - Linkage analysis

KW - Paroxysmal choreoathetosis

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M3 - Articolo

AN - SCOPUS:33645229318

SP - 81

EP - 84

JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

SN - 0394-560X

IS - 129-130

ER -

Ereditarietà e fenotipo clinico in 16 famiglie con convulsioni infantili familiari benigne (BFIS)

Abstract

ASJC Scopus subject areas

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