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Generalized epilepsy with febrile seizures plus type 5(GEFSP5)

MedGen UID:
502049
Concept ID:
C3501643
Disease or Syndrome
Synonyms: GABRD-Related Generalized Epilepsy with Febrile Seizures Plus; GEFSP5

Recent clinical studies

Etiology

Terczyńska I, Szczepanik E, Duszyc K, Górka P, Tataj R, Hoffman-Zacharska D
Dev Period Med 2014 Oct-Dec;18(4):426-31. PMID: 25874779

Diagnosis

Terczyńska I, Szczepanik E, Duszyc K, Górka P, Tataj R, Hoffman-Zacharska D
Dev Period Med 2014 Oct-Dec;18(4):426-31. PMID: 25874779
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC
Epilepsia 2009 Jul;50(7):1670-8. Epub 2009 Mar 12 doi: 10.1111/j.1528-1167.2009.02013.x. PMID: 19400878

Prognosis

Alekov A, Rahman MM, Mitrovic N, Lehmann-Horn F, Lerche H
J Physiol 2000 Dec 15;529 Pt 3(Pt 3):533-9. doi: 10.1111/j.1469-7793.2000.00533.x. PMID: 11118488Free PMC Article

Clinical prediction guides

Feng HJ, Kang JQ, Song L, Dibbens L, Mulley J, Macdonald RL
J Neurosci 2006 Feb 1;26(5):1499-506. doi: 10.1523/JNEUROSCI.2913-05.2006. PMID: 16452673Free PMC Article
Alekov A, Rahman MM, Mitrovic N, Lehmann-Horn F, Lerche H
J Physiol 2000 Dec 15;529 Pt 3(Pt 3):533-9. doi: 10.1111/j.1469-7793.2000.00533.x. PMID: 11118488Free PMC Article
Nakayama J, Hamano K, Iwasaki N, Nakahara S, Horigome Y, Saitoh H, Aoki T, Maki T, Kikuchi M, Migita T, Ohto T, Yokouchi Y, Tanaka R, Hasegawa M, Matsui A, Hamaguchi H, Arinami T
Hum Mol Genet 2000 Jan 1;9(1):87-91. doi: 10.1093/hmg/9.1.87. PMID: 10587582

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