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Childhood absence epilepsy (CAE), a common form of idiopathic generalized epilepsy, accounts for 5%-15% of childhood epilepsies. To map the chromosomal locus of persisting CAE, we studied the clinical and electroencephalographic traits of 78 members of a five-generation family from Bombay, India. The model-free affected-pedigree member method was used during initial screening with chromosome 6p, 8q, and 1p microsatellites, and only individuals with absence seizures and/or electroencephalogram 3-4-Hz spike- and multispike-slow wave complexes were considered to be affected. Significant P values of .00000-.02 for several markers on 8q were obtained. Two-point linkage analysis, assuming autosomal dominant inheritance with 50% penetrance, yielded a maximum LOD score (Zmax) of 3.6 for D8S502. No other locus in the genome achieved a significant Zmax. For five smaller multiplex families, summed Zmax was 2.4 for D8S537 and 1.7 for D8S1761. Haplotypes composed of the same 8q24 microsatellites segregated with affected members of the large family from India and with all five smaller families. Recombinations positioned the CAE gene in a 3.2-cM interval.

Despite affecting 4 million Americans and 100-200 million persons worldwide, the precise molecular mechanisms of human epilepsies remain unknown. Juvenile myoclonic epilepsy (JME) is the most frequent and, hence, most important form of hereditary grand mal epilepsy. In this epilepsy, electroencephalographic (EEG) 15-30-Hz multispikes produce myoclonic and tonic-clonic convulsions beginning at 8-20 years of age. Moreover, EEG 3.5-6-Hz multispike wave complexes appear in clinically asymptomatic family members. We first studied 38 members of a four-generation LA-Belize family with classical JME but with no pyknoleptic absences. Five living members had JME; four clinically asymptomatic members had EEG multispike wave complexes. Pairwise analysis tightly linked microsatellites centromeric to HLA, namely D6S272 (peak lod score [Zmax] = 3.564-3.560 at male-female recombination [theta m = f] = 0-.001) and D6S257 (Zmax = 3.672-3.6667 at theta m = f = 0-.001), spanning 7 cM, to convulsive seizures and EEG multispike wave complexes. A recombination between D6S276 and D6S273 in one affected member placed the JME locus within or below HLA. Pairwise, multipoint, and recombination analyses in this large family independently proved that a JME gene is located in chromosome 6p, centromeric to HLA. We next screened, with the same chromosome 6p21.2-p11 short tandem-repeat polymorphic markers, seven multiplex pedigrees with classic JME. When lod scores for small multiplex families are added to lod scores of the LA-Belize pedigree, Zmax values for D6S294 and D6S257 are > 7 (theta m = f = .000). Our results prove that in chromosome 6p21.2-p11 an epilepsy locus exists whose phenotype consists of classic JME with convulsions and/or EEG rapid multispike wave complexes.

DeGiorgio C, Pietsch-Escueta S, Tsang V, Corral-Leyva G, Ng L, Medina MT, Astudillo S, Padilla N, Leyva P, Martinez L, Noh J, Levine M, del Villasenor R, Sorvillo F. Sero-prevalence ofTaenia soliumCysticercosis andTaenia soliumTaeniasis in California, USA.Acta Neurol Scand 2005: 111: 84–88.© Blackwell Munksgaard 2005.Taenia soliumCysticercosis is a leading cause of epilepsy and neurological disability in the developing world. It is caused by ingestion of the eggs of the tapeworm,T. soliumTaeniasis. The prevalence of eitherT. soliumCysticercosis orT. soliumTaeniasis in the United States in populations at risk is poorly understood. The primary objectives of this study are to perform the first study of the sero-prevalence ofT. soliumCysticercosis andT. soliumTaeniasis in an at-risk community in the USA, specifically rural Southern California; identifyT. soliumTaeniasis positive individuals, and treat positive individuals for the tapewormT. soliumTaeniasis.Community based sero-prevalence study of antibodies toT. soliumCysticercosis andT. soliumTaeniasis in 449 subjects living in a federally funded, predominantly Hispanic residential community; and in two migrant farm worker camps in rural Ventura County, California, USA. For this study, fingerstick blood samples were obtained. Serum immunoblots for bothT. soliumCysticercosis andT. soliumTaeniasis were performed.The sero-prevalence ofT. soliumCysticercosis was 1.8% and the sero-prevalence ofT. soliumTaeniasis by serum immunoblot was 1.1%.Taenia soliumCysticercosis andT. soliumTaeniasis antibodies were not detected in children. The sero-prevalence ofT. soliumTaeniasis was highest in the migrant farm worker community. Handwashing frequency was correlated withT. soliumTaeniasis sero-positivity.The sero-prevalence ofT. soliumCysticercosis andT. soliumTaeniasis in this population, as detected by serum immunoblot, approximates the prevalence in some endemic areas of Latin America. Importantly, most patients likely had prior exposure, not active infection. This study establishes for the first time, the relative sero-prevalence ofT. soliumCysticercosis andT. soliumTaeniasis in at-risk populations in the United States. [ABSTRACT FROM AUTHOR]