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The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X chromosome. Our analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination(More)
A total of 354 cases of multiple sclerosis (MS) were collected from various published reports from India over the last three decades. MS is definitely an uncommon disease in India. Certain clinical characteristics, previously noted individually, have been confirmed to exist in India. When compared to MS in Western countries, the Indian cases show a(More)
OBJECTIVES To study the usefulness of short-term recording of video electroencephalography (VEEG) as an outpatient procedure with placebo induction (PLIN) and intravenous saline in cases of pseudoseizures (Psz). MATERIAL AND METHODS Fifty cases of suspected Psz were enrolled. They were divided into 2 groups: Group 1 consisted of patients with frank Psz,(More)
Expansion of CTG/CAG trinucleotide repeats has been shown to cause a number of autosomal dominant cerebellar ataxias (ADCA) such as SCA1, SCA2, SCA3/ MJD, SCA6, SCA7, SCA8 and DRPLA. There is a wide variation in the clinical phenotype and prevalence of these ataxias in different populations. An analysis of ataxias in 42 Indian families indicates that SCA2(More)
Several studies have reported that mutations in the GJB2 gene (coding for connexin26) are a common cause of recessive non-syndromic hearing impairment. A GJB2 mutant allele, 35delG, has been found to have a high prevalence in most ethnic groups. Though mutations in the GJB2 gene have been shown to cause autosomal recessive deafness in Indian families, the(More)
Twenty-one patients with spontaneous intraventricular haemorrhage (IVH) were reviewed with particular reference to the clinical outcome. Based on clinical and computed tomography (CT) findings, as well as possible mechanisms governing the formation of IVH, we were able to identify two separate groups: patients with haemorrhage into ventricles without(More)
OBJECTIVES Juvenile myoclonic epilepsy (JME) is a common, age related, idiopathic generalized epileptic syndrome. We aimed to define the expression of JME in Indian probands and study the occurrence of seizures/epileptic syndromes in their family members. METHODS We studied 225 JME probands with a uniform protocol. recording the type and frequency of(More)
Linkage evidence suggests that chromosome 13 (13q32-33) contains susceptibility genes for both bipolar disorder and schizophrenia. Recently, genes called "G72" and "G30" were identified, and polymorphisms of these overlapping genes were reported to be associated with schizophrenia. We studied two series of pedigrees with bipolar disorder: the Clinical(More)
Eleven adults suffering from drug-resistant epilepsies were given meditation practice, while another nine adults acted as waiting list controls. All patients were on antiepileptic drugs and their serum drug levels were monitored regularly. Patients in the intervention group were given training in meditation, and they practiced meditation 20 minutes a day(More)
OBJECTIVES The clinical data on individuals who were diagnosed to have juvenile myoclonic epilepsy (JME) on the basis of myoclonic jerks alone has been analysed. The points in favour and against individuals with only myoclonic jerks being classified as "affected" for research on JME are discussed. MATERIALS AND METHODS We studied 15 persons diagnosed with(More)