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Oct 31, 2014
Kroczka S, Biedroń A, Kaciński M
Glycogen storage diseases are rare genetic disorders, mostly autosomal recessively inherited. Abnormal accumulation is because of the lack of one of the enzymes involved in glycogen metabolism. Neurological manifestati...
Oct 31, 2014
Tzadok M, Nissenkorn A, Porper K, Matot I, Marcu S, Anikster Y, Menascu S, Bercovich D, Ben Zeev B
Glucose transporter protein type 1 deficiency syndrome is a metabolic disorder manifesting as cognitive impairment, acquired microcephaly, epilepsy, and/or movement disorder caused by mutations in the SLC2A1 gene. We d...
Oct 31, 2014
Klein P, Tyrlikova I, Mathews GC
We review adjunctive ketogenic diet (KD) and modified Atkins diet (MAD) treatment of refractory epilepsy in adults. Only a few studies have been published, all open-label. Because of the disparate, uncontrolled nature ...
Oct 31, 2014
Moseley BD, Degiorgio CM
Refractory status epilepticus (RSE) is a neurologic emergency associated with significant morbidity and mortality. Alternative therapies are needed for patients who do not respond to more traditional therapies for RSE....
Oct 30, 2014
Larsen J, Stubbings V, Møller RS, Hjalgrim H
Glucose transporter-1 deficiency syndrome (GLUT1-DS) is caused by a decreased function of the glucose transporter GLUT1 protein, which is located in the blood brain barrier. This leads to inadequate glucose levels for ...
Oct 28, 2014
Jo WS, Hossain MA, Park SC
Mushrooms are a recognized component of the human diet, with versatile medicinal properties. Some mushrooms are popular worldwide for their nutritional and therapeutic properties. However, some species are dangerous be...
Oct 24, 2014
Kayyali HR, Gustafson M, Myers T, Thompson L, Williams M, Abdelmoity A
OBJECTIVE: To determine the efficacy of the ketogenic diet in controlling epileptic spasms after failing traditional antiepileptic medication therapy. METHODS: This is a prospective, case-based study of all inf...
Oct 22, 2014
Singh RK, Joshi SM, Potter DM, Leber SM, Carlson MD, Shellhaas RA
Febrile infection-related epilepsy syndrome (FIRES) is a newly recognized epileptic encephalopathy in which previously healthy school-aged children present with prolonged treatment-resistant status epilepticus (SE). Su...
Oct 19, 2014
Chang P, Zuckermann A, Williams S, Close AJ, Cano-Jaimez M, McEvoy JP, Spencer J, Walker MC, Williams RS
The medium chain triglyceride (MCT) ketogenic diet is a major treatment for drug resistant epilepsy but is problematic, particularly in adults, because of poor tolerability. Branched derivatives of octanoic acid, a med...
Oct 10, 2014
Park MJ, Aja S, Li Q, Degano AL, Penati J, Zhuo J, Roe CR, Ronnett GV
Rett syndrome (RTT) is an autism spectrum disorder (ASD) caused by mutations in the X-linked MECP2 gene that encodes methyl-CpG binding protein 2 (MeCP2). Symptoms range in severity and include psychomotor disabilities...

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