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Sep 8, 2016
Palmer S, Towne MC, Pearl PL, Pelletier RC, Genetti CA, Shi J, Beggs AH, Agrawal PB, Brownstein CA
BACKGROUND: Epilepsy with myoclonic-atonic seizures, also known as myoclonic-astatic epilepsy or Doose syndrome, has been recently linked to variants in the SLC6A1 gene. Epilepsy with myoclonic-atonic seizures is often...
Sep 7, 2016
Chiusolo F, Diamanti A, Bianchi R, Fusco L, Elia M, Capriati T, Vigevano F, Picardo S
BACKGROUND: Ketogenic diet (KD) has been used to treat refractory status epilepticus (RSE). KD is a high-fat, restricted-carbohydrate regimen that may be administered with different fat to protein and carbohydrate rati...
Sep 3, 2016
Pasca L, De Giorgis V, Macasaet JA, Trentani C, Tagliabue A, Veggiotti P
Ketogenic diet is an established and effective non-pharmacologic treatment for drug-resistant epilepsy. Ketogenic diet represents the treatment of choice for GLUT-1 deficiency syndrome and pyruvate dehydrogenase comple...
Sep 1, 2016
Fukuoka M, Kuki I, Kawawaki H, Okazaki S, Kim K, Hattori Y, Tsuji H, Nukui M, Inoue T, Yoshida Y, Uda T, Kimura S, Mogami Y, Suzuki Y, Okamoto N, Saitsu H, Matsumoto N
The KCNT1 gene encodes the sodium-dependent potassium channel, with quinidine being a partial antagonist of the KCNT1 channel. Gain-of-function KCNT1 mutations cause early onset epileptic encephalopathies including mig...
Aug 31, 2016
Lusardi TA, Akula KK, Coffman SQ, Ruskin DN, Masino SA, Boison D
Epilepsy is a highly prevalent seizure disorder which tends to progress in severity and become refractory to treatment. Yet no therapy is proven to halt disease progression or to prevent the development of epilepsy. Be...
Aug 30, 2016
Lambrechts DA, Brandt-Wouters E, Verschuure P, Vles HS, Majoie MJ
OBJECTIVE: To evaluate the changes in serum CCK-8 and leptin levels in patients with refractory epilepsy treated with the ketogenic diet (KD). METHODS: In this prospective study, patients aged between one and 4...
Aug 27, 2016
Finsterer J, Wakil SM
PURPOSE: Stroke-like episodes (SLEs) are a hallmark of various mitochondrial disorders, in particular MELAS syndrome. SLEs manifest with vasogenic oedema (DWI and ADC hyperintensity) or partial cytotoxic oedema (DWI hy...
Aug 25, 2016
Farias-Moeller R, Bartolini L, Pasupuleti A, Brittany Cines RD, Kao A, Carpenter JL
BACKGROUND: Super-refractory status epilepticus (SRSE) ensues when there is no improvement of seizure control in response to anesthetic therapy or seizure recurrence after reduction of anesthetic agents. There is no co...
Aug 24, 2016
Webster M, Gabe J
The ketogenic diet is a high-fat diet used to treat drug-resistant childhood epilepsy. Given that negative meanings tend to be attached to fatty foods and children's food consumption is seen to be the responsibility of...
Aug 23, 2016
Ciarlone SL, Grieco JC, D'Agostino DP, Weeber EJ
Angelman syndrome (AS) is a rare genetic and neurological disorder presenting with seizures, developmental delay, ataxia, and lack of speech. Previous studies have indicated that oxidative stress-dependent metabolic dy...

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