S2CID 33856792.Review
Wetzel-Strong, Sarah E; Detter, Matthew R; Marchuk, Douglas A (2017-01-01). "The pathobiology of vascular malformations: insights from human and model organism genetics". The Journal of Pathology. 241 (2): 281–293. doi:10.1002/path.4844. ISSN 1096-9896. PMC 5167654. PMID 27859310. Albuisson, Juliette; Moceri, Pamela; Flori, Elisabeth; Belli, Emre; Gronier, Céline; Jeunemaitre, Xavier (2017-03-21). "Clinical utility gene card for: Arterial tortuosity syndrome". European Journal of Human Genetics. 23 (10): 1432. doi:10.1038/ejhg.2014.294. ISSN 1018-4813. PMC 4592088. PMID 25604859. == External links ==
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


== External links ==