Janice A. Egeland

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Reanalysis of an Old Order Amish pedigree, to include several new individuals and two changes in clinical status, markedly reduces the probability of linkage between bipolar affective disorder and the Harvey-ras-1 oncogene and insulin loci on chromosome 11. This linkage can be excluded using a large lateral extension of the original Amish pedigree.
Ellis-van Creveld syndrome (EvC; MIM 225500) is an autosomal recessive chondrodysplastic dwarfism. Thus far, the identified mutations in the EVC gene located on chromosome 4p16 have only accounted for illness in a small proportion of affected individuals. In this report we describe a novel gene, EVC2, that is mutated in an Ashkenazi individual with EvC(More)
The authors review the goals, methods, sample, and selected epidemiologic findings from a collaborative study of affective disorders among the Amish. This culturally and genetically homogeneous population (N = 12,500) constitutes an excellent research setting for psychiatric epidemiologic and genetic study. Alcoholism, drug abuse, and sociopathy did not(More)
The most characteristic features of bipolar affective disorder (manic-depressive illness) are episodes of mania (bipolar I, BPI) or hypomania (bipolar II, BPII) interspersed with periods of depression. Manic-depressive illness afflicts about one percent of the population, and if untreated, is associated with an approximately 20% risk of suicide. Twin,(More)
OBJECTIVE A priority for research on manic-depressive or bipolar I disorder (BPI) for children and adolescents has been to search for early predictors of the illness. METHOD Medical record data were reviewed and systematically coded for a sample of 58 adult patients (32 males/26 females) with confirmed diagnoses of BPI to identify prodromal features and(More)
OBJECTIVE Prospective study of well children at risk of bipolarity to identify the frequency and pattern of potentially prodromal symptoms/behaviors for bipolar disorder type I (BPI) disorder. METHOD A total of 110 at-risk children with a BPI parent and 112 children with well parents were studied. Ten-year data collection used structured and(More)
Bipolar disorder is a common, heritable mental illness characterized by recurrent episodes of mania and depression. Despite considerable effort to elucidate the genetic underpinnings of bipolar disorder, causative genetic risk factors remain elusive. We conducted a comprehensive genomic analysis of bipolar disorder in a large Old Order Amish pedigree.(More)