0000000000871152

AUTHOR

Baldassare Barone

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Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.

2006

Summary: Purpose: Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition characterized by partial seizures, onset age from 3 to 9 months, and favorable outcome. BFIS loci were identified on chromosomes 19q12-13.1 and 16p12-q12, allelic to infantile convulsions and choreathetosis. The identification of SCN2A mutations in families with only infantile seizures indicated that BFNIS and BFIS may show overlapping clinical features. Infantile seizures also were in a family with familial hemiplegic migraine and mutations in the ATP1A2 gene. We have examined the heterogeneous genetics of BFIS by means of linkage analysis. Methods: Sixteen families were examined. Probands …

ProbandMaleGenetic LinkagePenetranceEpilepsyModelsgeneticsTomographyFamilial hemiplegic migraineGeneticsNeurologic ExaminationBrainChromosome MappingElectroencephalographyPenetranceMagnetic Resonance Imagingstatistics /&/ numerical dataPedigreeX-Ray ComputedNeurologyFemaleHumanmedicine.medical_specialtyBenign NeonatalBrain; pathology/radiography Chromosome Mapping Chromosomes; Human; Pair 16; genetics Chromosomes; Pair 19; genetics Electroencephalography; statistics /&/ numerical data Epilepsy; Benign Neonatal; diagnosis/genetics Family Female Genetic Heterogeneity Genetic Linkage Haplotypes Humans Magnetic Resonance Imaging Male Models; Genetic Mutation; genetics Neurologic Examination Pedigree Penetrance Tomography; X-Ray Computedpathology/radiographyChromosomesGenetic HeterogeneityGeneticGenetic linkageFebrile seizureGenetic modelmedicineHumansFamilyPsychiatryEpilepsyModels GeneticPair 19Genetic heterogeneitybusiness.industryPair 16medicine.diseaseEpilepsy Benign NeonatalHaplotypesMutationNeurology (clinical)Tomography X-Ray ComputedbusinessChromosomes Human Pair 19Chromosomes Human Pair 16diagnosis/genetics
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