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Sep 12, 2014
Kossoff EH, Veggiotti P, Genton P, Desguerre I
The transition of adolescents with refractory epilepsy to the care of adult neurologists can be challenging. For those patients with epilepsy due to mitochondrial disorders, Lafora disease, Unverricht-Lundborg disease,...
Sep 12, 2014
Steller J, Gargus JJ, Gibbs LH, Hasso AN, Kimonis VE
Pyruvate dehydrogenase complex (PDHC) deficiency is an inborn error of metabolism that occurs most commonly due to mutations in the X-linked E1α subunit gene (PDHA1). We report a novel duplication of PDHA1 associated w...
Sep 12, 2014
Chapman KE, Kim DY, Rho JM, Ng YT, Kerrigan JF
Seizures associated with hypothalamic hamartoma (HH) are notoriously intractable to medical therapy, and while surgical resection affords most affected patients with complete or near seizure-freedom, there remains a ne...
Sep 10, 2014
Meidenbauer JJ, Roberts MF
Dietary therapy has been used to treat many individuals with epilepsy whose seizures are refractory to antiepileptic drugs. The mechanisms for how dietary therapy confers seizure protection are currently not well under...
Sep 6, 2014
Stockler-Ipsiroglu S, van Karnebeek CD
Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], g...
Sep 2, 2014
Masino SA, Kawamura M, Ruskin DN
Adenosine receptors are a powerful therapeutic target for regulating epileptic seizures. As a homeostatic bioenergetic network regulator, adenosine is perfectly suited to establish or restore an ongoing balance between...
Aug 30, 2014
Walker MC, Williams RS
Drug-resistant epilepsy has remained a problem since the inception of antiepileptic drug development, despite the large variety of antiepileptic drugs available today. Moreover, the mechanism-of-action of these drugs i...
Aug 30, 2014
Kawamura M, Ruskin DN, Geiger JD, Boison D, Masino SA
A high-fat, low-carbohydrate ketogenic diet is an effective treatment for refractory epilepsy, yet myriad metabolic effects in vivo have not been reconciled clearly with neuronal effects. A ketogenic diet limits blood ...
Aug 30, 2014
Borlot F, Tellez-Zenteno JF, Allen A, Ali A, Snead OC, Andrade DM
OBJECTIVES: Children with severe chronic epilepsy are living longer, and they eventually transition to the adult health care system. Additional research is required to better define the population that is being transfe...
Aug 29, 2014
O'Connor SE, Richardson C, Trescher WH, Byler DL, Sather JD, Michael EH, Urbanik KB, Richards JL, Davis R, Zupanc ML, Zupec-Kania B
BACKGROUND: Refractory status epilepticus carries a high risk of morbidity and mortality for children. Traditional treatment of status epilepticus consists of multiple anticonvulsant drugs and, if needed, induction of ...

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