| 1 | GEFSP2, SCN1A
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| Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects.
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| Cestèle S, Schiavon E, Rusconi R, Franceschetti S, Mantegazza M.
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| Proc Natl Acad Sci U S A 110(43):17546-51. doi: 10.1073/pnas.1309827110. Epub 2013 Oct 7.
2013
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| 2 | GABRG2, GEFSP1, GEFSP2, SCB1A, SCN1B, SMEI2
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| Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
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| Scheffer IE, Zhang YH, Jansen FE, Dibbens L.
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| Brain Dev 31(5):394-400. Epub 2009 Feb 8. 2009
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| 3 | ETHA, GEFSP2, SCN9A
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| A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
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| Singh NA, Pappas C, Dahle EJ, Claes LR, Pruess TH, De Jonghe P, Thompson J, Dixon M, Gurnett C, Peiffer A, White HS, Filloux F, Leppert MF.
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| PLoS Genet 5(9):e1000649. Epub 2009 Sep 18.PMID: 19763161 2009
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| 4 | DEl2Q24, EIEE74, GEFSP2, SCN1A, SCN2A, SCN3A, SMEI2
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| SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
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| 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.
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| Epilepsia 50(7):1670-8. Epub 2009 Mar 12. 2009
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| 5 | GEFSP2, SCN1A
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| Divergent sodium channel defects in familial hemiplegic migraine.
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| Kahlig KM, Rhodes TH, Pusch M, Freilinger T, Pereira-Monteiro JM, Ferrari MD, van den Maagdenberg AM, Dichgans M, George AL Jr.
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| Proc Natl Acad Sci U S A 105(28):9799-804. Epub 2008 Jul 9. 2008
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| 6 | GEFSP2, SCN1A
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| Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel.
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| Cestèle S, Scalmani P, Rusconi R, Terragni B, Franceschetti S, Mantegazza M.
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| J Neurosci 28(29):7273-83.
2008
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| 7 | GEFSP2, SCN1A
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| Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation.
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| Colosimo E, Gambardella A, Mantegazza M, Labate A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A.
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| Epilepsia 48(9):1691-6. Epub 2007 Jun 12.
2007
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| 8 | GEFSP2, SCN1A
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| Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3.
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| Gargus JJ, Tournay A.
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| Pediatr Neurol 37(6):407-10.PMID: 18021921 2007
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| 9 | GABRG2, GEFSP2, SCN1A, SMEI2
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| Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults.
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| Jansen FE, Sadleir LG, Harkin LA, Vadlamudi L, McMahon JM, Mulley JC, Scheffer IE, Berkovic SF.
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| Neurology 67(12):2224-6.
2006
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| 10 | SCN1A, SMEI2, GEFSP2
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| SCN1A mutations and epilepsy.
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| Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA.
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| Hum Mutat 25(6):535-42. 2005
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| 11 | GEFSP2, SCN1A
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| Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.
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| Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Labate A, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A.
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| Proc Natl Acad Sci U S A 102(50):18177-82. Epub 2005 Dec 2. 2005
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| 12 | SCN1A, GEFSP2, SMEI2
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| SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.
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| Ebach K, Joos H, Doose H, Stephani U, Kurlemann G, Fiedler B, Hahn A, Hauser E, Hundt K, Holthausen H, Muller U, Neubauer BA.
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| Neuropediatrics 36(3):210-3. 2005
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| 13 | GEFSP2, SCN1A
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| De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
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| Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P.
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| Am J Hum Genet 68(6):1327-32. 2001
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| 14 | GEFSP2, SCN2A
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| A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.
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| Sugawara T, Tsurubuchi Y, Agarwala KL, Ito M, Fukuma G, Mazaki-Miyazaki E, Nagafuji H, Noda M, Imoto K, Wada K, Mitsudome A, Kaneko S, Montal M, Nagata K, Hirose S, Yamakawa K.
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| Proc Natl Acad Sci U S A 98(11):6384-9. 2001
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| 15 | GEFSP2
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| A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2.
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| Lopes-Cendes I, Scheffer IE, Berkovic SF, Rousseau M, Andermann E, Rouleau GA.
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| Am J Hum Genet 66(2):698-701. 2000
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| 16 | GEFSP2, SCN1A
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| Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
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| Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A.
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| Nat Genet 24(4):343-5. No abstract available. 2000
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| 17 | GEFSP2
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| A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33.
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| Baulac S, et al.
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| Am J Hum Genet 65(4):1078-1085 1999
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| 18 | GEFSP2
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| Identification of a New Locus for Generalized Epilepsy with Febrile Seizures Plus (GEFS+) on Chromosome 2q24-q33.
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| Moulard B, Guipponi M, Chaigne D, Mouthon D, Buresi C, Malafosse A.
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| Am J Hum Genet 65(5):1396-1400 1999
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