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A descriptive study of genotype-phenotype characteristics of children with autism spectrum disorder with coexisting epilepsy Sudhakar k , Ramshekhar Menon, Muralidharan Nair , Soumya Sundaram Autism spectrum disorder and epilepsy co-exists in many patients, suggesting a common etio-pathological basis. The recent advances in the understanding of molecular mechanisms of autism and unraveling of various genes have provided a link between epilepsy and autism.This is a retrospective descriptive analysis of 13 patients under 18 years of age who were diagnosed with ASD (based on DSM V criteria) and coexisting epilepsy.This study analyzed the...
 
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Disease Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Motor System Seizures Laboratory and Tissue Studies Course Adrenoleukodystrophy and variants (peroxisomal disease) X-linked Xq28 Neonatal form: AR Acyl-CoA synthetase 5–10 y May also present as newborn, adolescent, or adult Impaired intellect ...
 
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Disease Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Somatic Findings Motor Findings Seizures Labs Clinical Course White matter Globoid (Krabbe) leukodystrophy Recessive galactocerebroside β-galactosidase deficiency. Chromosome 14q21–14q31 Infantile form first 6 mo. Late-onset form 2–6 y. Adolescent and adult forms are rare Feeding difficulties Shrill cry ...
 
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  Adverse Drug Reaction Acute Side Effects   Drug Concentration Dependent Idiosyncratic Chronic Side Effects Carbamazepine Diplopia Dizziness Drowsiness Nausea Unsteadiness Lethargy Blood dyscrasias Rash (HLA antigen testing may be relevant to avoid Stevens–Johnson or toxic epidermal necrolysis) ...
 
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AED Dosing and Target Serum Concentrations
 
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Benign (no-familial) neonatal seizures versus Benign familial neonatal seizures
 
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References Drug Study Design Evidence level Dose Age(years) Number of patients Responders (%) Active drug Responders (%) Placebo p value ...
 
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