title: Pediatric epileptology.
abstract: Challenges facing children with epilepsy are understanding the neurobiology of pharmacoresistance of epileptic encephalopathies and the development of effective surgical treatment options for those with "non-lesional" epilepsy. Although, understanding the genetics of childhood epilepsy has advanced, an effective treatment intervention has not occurred. Recently, understanding the neurobiology of hamartin and tuberin in the development of epilepsy and cognitive impairment associated with tuberous sclerosis complex allowed the development of sirolimus and everolimus to be used in human clinical trials. In spite of these breakthroughs a large number of children are likely to be outside the scope of interventional therapies. For such patients the burden of seizures is onerous and psycho-social consequences debilitating. Surgical resective options are often limited by the lack of a well defined epileptic lesion. Co-registered synthesis of advanced functional, structural and electrographic seizure onset allows identification of a focus in patients thought to have "non-lesional" epilepsy. Developments of a Pipeline for prospective data sharing are likely to increase understanding and validation of the epileptogenic zone and offer the hope of seizure freedom. Two outstanding young investigators provide a review of their exciting research and its implications in pediatric epilepsy.
authors.affiliation: Department of Neurology, Children's Hospital Boston, Boston, MA, USA.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Sahin
authors.forename: Ian
authors.initials: I
authors.lastname: Miller
authors.forename: Gregory L
authors.initials: GL
authors.lastname: Holmes
authors.forename: Raj D
authors.initials: RD
authors.lastname: Sheth
mesh_terms: D002648:Child; D003072:Cognition Disorders / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D019295:Computational Biology; D004827:Epilepsy / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D014402:Tuberous Sclerosis / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000378:metabolism
chemical_list: C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins