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Optimal clinical management of children receiving the ketogenic diet: Recommendations of the International Ketogenic Diet Study Group
The ketogenic diet (KD) is an established, effective nonpharmacologic treatment for intractable childhood epilepsy. The KD is provided differently throughout the world, with occasionally significantExpand
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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles or just beneath. Human Filamin A gene (FLNA) mutations are associated with classical X-linkedExpand
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Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
Objectives: SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93 patients with SMEI and madeExpand
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Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group
Ketogenic dietary therapies (KDTs) are established, effective nonpharmacologic treatments for intractable childhood epilepsy. For many years KDTs were implemented differently throughout the world dueExpand
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The Ketogenic diet: from molecular mechanisms to clinical effects
Recent years have witnessed an increased interest from pediatric neurologists, neuropediatricians, epileptologists and general neurologists in the use of the ketogenic diet (KD) for the management ofExpand
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GLUT1 deficiency syndrome 2013: Current state of the art
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose transport into the brain. The "classic" GLUT1DS patient presents with infantile seizures (resistant toExpand
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The ketogenic diet in children, adolescents and young adults with refractory epilepsy: an Italian multicentric experience
PURPOSE This collaborative study by three Italian groups of child neuropsychiatrists was carried on to evaluate the efficacy and safety of the classic 4:1 ketogenic diet as add-on treatment inExpand
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Continuous Spike‐and‐Wave Activity During Slow‐Wave Sleep: Syndrome or EEG Pattern?
Summary: Purpose: We reviewed the electroclinical pictures and clinical characteristics of 32 patients with continuous spike‐and‐wave activity during slow sleep (CSWS) to ascertain to what extentExpand
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Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation. AExpand
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Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance
To dissect the genetics of benign familial epilepsies of the first year of life and to assess the extent of the genetic overlap between benign familial neonatal seizures (BFNS), benign familialExpand
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