..., ^***P < 0.001). Abstract Infantile spasms syndrome (ISS) is an early-onset epileptic encephalopathy characterized by uncontrollable seizures, severe electroencephalogram abnormalities, as well as delayed cognitive and behavioral development. Independent studies have shown that a variety of genes...

... for more personalized care in TSC. tuberous sclerosis infantile spasms TAND angiomyolipoma SEGA genotype-phenotype correlation ACCEPTED MANUSCRIPT 1 Phenotypic clustering in tuberous sclerosis complex reveals 2 four distinct disease trajectories 3 Andrew Dhawan,1,2 Harshita Kumar,1 Honglian Huang1...

...Chandra Prabha; Chandra Kanta; Arpita Bhriguvanshi; Sanjeev Kumar Verma West Syndrome (WS) is an age-specific epileptic disorder typically manifesting in infancy and early childhood. The hallmark clinical–electrical triad comprises infantile spasms (IS), neurodevelopmental regression...

... of adult epilepsy surgery patients despite mostly extratemporal and hemispheric operations for diverse developmental etiologies. Children Epilepsy Focal Hemispherectomy Infantile spasms Surgery Surgical treatment for adult patients with medication-resistant epilepsy has become an increasingly...

... neurologists. In addition, we studied DNA samples of children from 12 consanguineous families with infantile spasms (age of onset <1 year) of undetermined aetiology. Patients were ascertained through the United Kingdom Infantile Spasms Study (UKISS) group, the British Paediatric Neurology Surveillance Unit...

... of infantile spasms had a 40% increase in the size of layer 1 neurons compared with cases without spasms. By age, regardless of pathology group, there were logarithmic increases in MRI cerebral and white matter volumes, logarithmic increases in the size of lower gray and superficial white matter neurons...

... and aberrant axon circuits may contribute to chronic hippocampal seizures. However, repeated childhood generalized seizures are not necessarily associated with the development of hippocampal sclerosis. Cortical dysplasia infantile spasms hippocampal development synaptogenesis activity-dependent Brain (1996...

... infantile spasms and West syndrome, Lennox-Gastaut syndrome, and Dravet and Doose syndromes. The efficacy and role of diet therapy in these conditions are discussed. ketogenic diets drug-resistant epilepsy epileptic encephalopathy infantile spasms Lennox- Gastaut syndrome Dravet syndrome Doose...

... disability and often also epilepsy, infantile spasms, hand dystonia, lissencephaly, autism or dysarthria. This chapter summarizes currently known mutations in ARX and their clinical manifestations and explores what is known about the underlying molecular and cellular mechanisms. ARX polyalanine tract...

...) characteristics that occur together. This chapter reviews the basic definitions and classifications of seizure disorders and epilepsy. Select epilepsy syndromes are also reviewed. Focal seizures Generalized seizures Benign familial neonatal convulsions Infantile spasms and West syndrome Benign childhood...

..., as it opens new perspectives for early diagnosis, prognosis and treatment. Here, we provide an up-to-date overview of the most common pediatric epilepsy syndromes, their clinical findings, associated EEG findings, and clinical management. epilepsy Otahara syndrome; infantile spasms Dravet syndrome Landau...

...0 25 03 2010 autistic savants dyslexia family therapy homocystinuria infantile spasms nocturnal enuresis puberty reading age serotonin blood levels All of the following are features of Down’s syndrome except Increased cardiac mortality and morbidity Lax ligaments Wide gap...

... of epilepsy as well as identification of potential biomarkers. This chapter reviews the aspects of TSC unique to pediatric patients, the status of current research, and future directions. tuberous sclerosis neurocutaneous syndromes mTOR seizures infantile spasms intellectual disability genetic disorder...

...Oxford University Press Tuberous sclerosis complex is an autosomal dominant multi-system disease that involves the skin, brain, heart, lungs, and kidneys and is associated with seizures including infantile spasms, intellectual disability, autism and pulmonary and heart disease. Skin lesions can...