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GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy

✍ Scribed by Striano, P.; Weber, Y. G.; Toliat, M. R.; Schubert, J.; Leu, C.; Chaimana, R.; Baulac, S.; Guerrero, R.; LeGuern, E.; Lehesjoki, A.- E.; Polvi, A.; Robbiano, A.; Serratosa, J. M.; Guerrini, R.; Nurnberg, P.; Sander, T.; Zara, F.; Lerche, H.; Marini, C.


Book ID
118735495
Publisher
Lippincott Williams and Wilkins
Year
2012
Tongue
English
Weight
631 KB
Volume
78
Category
Article
ISSN
0028-3878

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Severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) is a rare disorder occurring in young children often without a family history of a similar disorder. The earliest disease manifestations are usually fever-associated seizures. Later in life, patients display different types of afebrile s