Seizures are believed to originate in the thalamus, where there is an abundance of T-type calcium channels such as those encoded by the CACNA1H gene (12). In a European study CACNA1H associated with CAE, 20 mutations have been identified. These mutations are likely not wholly causative and should instead be thought of as giving susceptibility. This is particularly true since some groups have found no connection between CAE and CACNA1H mutations. Many of the CACNA1H mutations have a measurable effect on channel kinetics on activation time constant and voltage dependence, on deactivation time constant, and on inactivation time constant and voltage dependence. should leading either to neuronal excitability or hypo excitability. However, these predictions result from mathematical modeling and may differ from what occurs in neurons (in vivo) where other proteins, some of which may interact with CACNA1H, are present. Along with mutations in the CACNA1H gene, two mutations in gamma-aminobutyric acid receptor subunit gamma-2 (GABRG2), the gene encoding a GABAA receptor gamma subunit, are also associated with a CAE-like phenotype that also overlaps with generalized epilepsy with febrile seizures plus type-3. The first of these, R43Q, abolishes benzodiazepine potentiation of gamma-aminobutyric acid induced currents. The second associated mutation, C588T, has not been further characterized. Diagnosis
CAE can be diagnosed during an outpatient clinic visit with a careful history, physical exam including hyperventilation, and a routine electroencephalogram.
Glucose/fructose/phosphoric acid (trade name Emetrol) is an over-the-counter antiemetic taken to relieve nausea and vomiting. Made by WellSpring Pharmaceutical Corporation, it was formerly distributed by McNeil Consumer Healthcare. History
Emetrol was created by Kinney and Company of Columbus, Indiana and was first used in 1949.It is a phosphorated carbohydrate solution, and comes in syrup form. Contraindications
Since Emetrol contains fructose it is contraindicated for people with hereditary fructose intolerance (HFI). In diabetes patients, it can cause potentially harmful hyperglycaemia (high blood sugar). References
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