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Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts. We sought to identify mutations in the MLC1 gene, to evaluate the genotype-phenotype correlation, and to develop a strategy for diagnosing Indian patients with megalencephalic leukoencephalopathy. Forty patients were enrolled. We developed a rapid restriction(More)
Recent studies have evaluated possible links between polymorphisms in maternal folate metabolism genes and Down syndrome. Some of these studies show a significantly increased prevalence of the C677T polymorphism of the 5,10-methylene tetrahydrofolate reductase (NADPH) gene (MTHFR) among mothers who have had babies with Down syndrome. This study examined the(More)
Harlequin syndrome, Harlequin sign, Holmes-Adie syndrome, and Ross syndrome lie on a spectrum of partial dysautonomias affecting facial sudomotor, vasomotor, and pupillary responses. These syndromes have imprecise clinical boundaries and overlap syndromes are known. We report a 9-year-old girl who presented with anhidrosis over the right half of her face(More)
AIM This study evaluated the efficacy and tolerability of the ketogenic diet (KD) in young Indian children with refractory epilepsy. The changes in biochemical and lipid profile with KD were also assessed. METHODS Children aged 6 months to 5 years who had daily seizures (or at least 7 seizures/week) despite the appropriate use of at least three(More)
Children with infantile epileptic encephalopathies comprising 3.5% of the Pediatric Neurology Clinic registrations in a tertiary care hospital were retrospectively analyzed. Data were retrieved from case records and analyzed for seizure semiology, prenatal and perinatal insults, developmental status and relevant investigations. The various therapeutic(More)
BACKGROUND Limb girdle muscular dystrophy (LGMD) type 2A is caused by mutation in the gene encoding for calpain-3 resulting in total or partial loss of protein. Diagnosis of LGMD2A, the most prevalent form of LGMD, is established by analyzing calpain-3 protein deficiency or CAPN3 gene mutation. Since there is no data from India regarding the incidence of(More)
Childhood epileptic syndrome characterized by early onset gelastic seizures, hypothalamic hamartoma and precocious puberty is well recognized though rare. We report association of agenesis of corpus callosum, Dandy-Walker complex and heterotopic gray matter with this childhood epileptic syndrome which is hitherto an unreported association. The child showed(More)
This cross-sectional study was planned to study the blood ammonia levels in epileptic children on 2 dose ranges of valproic acid monotherapy. A total of 60 epileptic children aged 3 months to 12 years, that were on valproic acid monotherapy for at least 3 months, were enrolled and divided into 2 groups, a low-dose group (dose, 20-39 mg/kg/d [n = 32]) and a(More)
There are conflicting reports in the literature about the influence of valproate on thyroid function. A cross-sectional study was performed to determine the prevalence of subclinical hypothyroidism in ambulatory children aged 3 to 15 years with controlled epilepsy receiving valproate monotherapy for at least 6 months. Fifty-seven consecutive children with(More)
OBJECTIVES To review clinical characteristics and response to immunomodulation therapy in autoimmune encephalitis presenting with status epilepticus (SE), epilepsy, and cognitive decline. DESIGN Observational, prospective case series. SETTING All India Institute of Medical Sciences, New Delhi, India. MATERIALS AND METHODS Prospective analysis of 15(More)