The result of this mutation is completely non-functional channels and membrane hypoexcitability. The truncated mutant protein also seems to cause wild-type channels to inactivate at more hyperpolarized potentials, indicating that it also acts in a dominant negative manner. Management
Long term management is by use of anticonvulsant medication, principally valproate, stiripentol, topiramate or clobazam. Ketogenic diet has also been found useful in certain cases Management of breakthrough seizures is by benzodiazepine such as midazolam. See also
Febrile seizures
Idiopathic generalized epilepsy
Dravet Syndrome Foundation
International Dravet Epilepsy Action League

References


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Overhydrated hereditary stomatocytosis
Dehydrated hereditary stomatocytosis (hereditary xerocytosis; hereditary hyperphosphatidylcholine haemolytic anaemia)
Dehydrated hereditary stomatocytosis with perinatal edema and/or pseudohyperkalemia
Cryohydrocytosis
Blackburn variant
Familial pseudohyperkalaemia (not associated with hemolytic anemia)There are other families that do not fall neatly into any of these classifications.Stomatocytosis is also found as a hereditary disease in Alaskan malamute and miniature schnauzer dogs. Treatment
At present there is no specific treatment. Many patients with haemolytic anaemia take folic acid (vitamin B9) since the greater turnover of cells consumes this vitamin. During crises transfusion may be required. Clotting problems can occur for which anticoagulation may be needed. Unlike hereditary spherocytosis, splenectomy is contraindicated. References
Further reading


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