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May 24, 2016
Mahajnah M, Corderio D, Austin V, Herd S, Mutch C, Carter M, Struys E, Mercimek-Mahmutoglu S
BACKGROUND: Pyridoxine-dependent epilepsy (PDE) is caused by mutations in ALDH7A1 (PDE-ALDH7A1), which encodes α-aminoadipic semialdehyde dehydrogenase in the lysine catabolic pathway, resulting in accumulation of α-am...
May 22, 2016
Matsuda KM, Sharma D, Schonfeld AR, Kwatra SG
Chronic pruritus is a distressing symptom that is often refractory to treatment. Patients frequently fail topical therapies and oral over-the-counter antihistamines, prompting the clinician to consider alternative ther...
May 21, 2016
IJff DM, Postulart D, Lambrechts DA, Majoie MH, de Kinderen RJ, Hendriksen JG, Evers SM, Aldenkamp AP
PURPOSE: The ketogenic diet (KD) is increasingly used for the treatment of refractory epilepsy in childhood because of the beneficial effect on seizure reduction. The aim of the current study was to objectively assess ...
May 19, 2016
Doksöz Ö, Çeleğen K, Güzel O, Yılmaz Ü, Uysal U, İşgüder R, Çeleğen M, Meşe T
OBJECTIVE: Our primary aim was to determine the short-term effects of a ketogenic diet on cardiac ventricular function in patients with refractory epilepsy. METHODS: Thirty-eight drug-resistant epileptic patien...
May 19, 2016
Almuqbil M, Go C, Nagy LL, Pai N, Mamak E, Mercimek-Mahmutoglu S
OBJECTIVE: Glucose transporter 1 deficiency syndrome is an autosomal, dominantly inherited neurometabolic disorder caused by mutations in the SLC2A1 gene. Decreased glucose transport into the brain results in seizures ...
May 14, 2016
Gulati P, Cannell P, Ghia T, Bint L, Walsh P, Ghosh S, Nagarajan L
AIMS: Lacosamide (LCM) is a novel anti-epileptic drug (AED) that enhances the slow inactivation of voltage-gated sodium channels. Its efficacy as adjunctive therapy for focal seizures is confirmed in adult placebo cont...
May 13, 2016
Wang TT, Zhou D
Focal cortical dysplasia (FCD) presents a strong clinical challenge especially for the treatment of the associated epilepsy. Epilepsy in FCD is often treatment-resistant and constitutes 50% of treatment-resistant cases...
May 10, 2016
Yazdi S, Stein M, Elinder F, Andersson M, Lindahl E
Voltage-gated potassium (KV) channels are membrane proteins that respond to changes in membrane potential by enabling K+ ion flux across the membrane. Polyunsaturated fatty acids (PUFAs) induce channel opening by modul...
May 10, 2016
Bayrlee A, Ganeshalingam N, Kurczewski L, Brophy GM
Super-refractory status epilepticus (SRSE) is a devastating neurological condition with limited treatment options. We conducted an extensive literature search to identify and summarize the therapeutic options for SRSE....
May 8, 2016
Vezyroglou K, Cross JH
OPINION STATEMENT: The mainstay of treatment of epilepsy has been antiepileptic drugs; however, despite the emergence of new agents, a consistent proportion remain drug-resistant. Newer AEDs show promise. However, as i...

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