Spampanato J, Escayg A, Meisler M, Goldin A (2003). "Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels". Neuroscience. 116 (1): 37–48. doi:10.1016/S0306-4522(02)00698-X. PMID12535936. S2CID28204501.
Singh R, Andermann E, Whitehouse W, Harvey A, Keene D, Seni M, Crossland K, Andermann F, Berkovic S, Scheffer I (2001). "Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?". Epilepsia. 42 (7): 837–44. doi:10.1046/j.1528-1157.2001.042007837.x. PMID11488881. S2CID7256994.
Wallace R, Wang D, Singh R, Scheffer I, George A, Phillips H, Saar K, Reis A, Johnson E, Sutherland G, Berkovic S, Mulley J (1998). "Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B". Nat Genet. 19 (4): 366–70. doi:10.1038/1252. PMID9697698. S2CID20962841.
Tammaro P, Conti F, Moran O (2002). "Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation". Biochem Biophys Res Commun. 291 (4): 1095–101. doi:10.1006/bbrc.2002.6570. PMID11866477.
Lucas P, Meadows L, Nicholls J, Ragsdale D (2005). "An epilepsy mutation in the beta1 subunit of the voltage-gated sodium channel results in reduced channel sensitivity to phenytoin". Epilepsy Res. 64 (3): 77–84. doi:10.1016/j.eplepsyres.2005.03.003. PMID15922564. S2CID22127664.
Audenaert D, Claes L, Ceulemans B, Löfgren A, Van Broeckhoven C, De Jonghe P (2003). "A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy". Neurology. 61 (6): 854–6. doi:10.1212/01.wnl.0000080362.55784.1c. PMID14504340. S2CID20308172.
Cossette P, Loukas A, Lafrenière R, Rochefort D, Harvey-Girard E, Ragsdale D, Dunn R, Rouleau G (2003). "Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)". Epilepsy Res. 53 (1–2): 107–17. doi:10.1016/S0920-1211(02)00259-0. PMID12576172. S2CID38953878.
Kearney J, Wiste A, Stephani U, Trudeau M, Siegel A, RamachandranNair R, Elterman R, Muhle H, Reinsdorf J, Shields W, Meisler M, Escayg A (2006). "Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy". Pediatr Neurol. 34 (2): 116–20. doi:10.1016/j.pediatrneurol.2005.07.009. PMID16458823.
Escayg A, MacDonald B, Meisler M, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A (2000). "Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2". Nat Genet. 24 (4): 343–5. doi:10.1038/74159. PMID10742094. S2CID29543172.
Alekov A, Rahman M, Mitrovic N, Lehmann-Horn F, Lerche H (2001). "Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man". Eur J Neurosci. 13 (11): 2171–6. doi:10.1046/j.0953-816x.2001.01590.x. PMID11422459. S2CID15745798.
Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, Hirose S, Fukuma G, Mitsudome A, Wada K, Kaneko S (2002). "Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A". Epilepsy Res. 48 (1–2): 15–23. doi:10.1016/S0920-1211(01)00313-8. PMID11823106. S2CID25555020.
Ito M, Yamakawa K, Sugawara T, Hirose S, Fukuma G, Kaneko S (2006). "Phenotypes and genotypes in epilepsy with febrile seizures plus". Epilepsy Res. 70 (2–3 Suppl): 199–205. doi:10.1016/j.eplepsyres.2005.11.028. PMID16884893. S2CID994890.
Nagao Y, Mazaki-Miyazaki E, Okamura N, Takagi M, Igarashi T, Yamakawa K (2005). "A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures". Epilepsy Res. 63 (2–3): 151–6. doi:10.1016/j.eplepsyres.2004.11.005. PMID15715999. S2CID37140042.
Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme J, Baulac M, Brice A, Bruzzone R, LeGuern E (2001). "First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene". Nat Genet. 28 (1): 46–8. doi:10.1038/88254. PMID11326274.
Wallace R, Marini C, Petrou S, Harkin L, Bowser D, Panchal R, Williams D, Sutherland G, Mulley J, Scheffer I, Berkovic S (2001). "Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures". Nat Genet. 28 (1): 49–52. doi:10.1038/88259. PMID11326275.
Spampanato J, Escayg A, Meisler M, Goldin A (2003). "Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels". Neuroscience. 116 (1): 37–48. doi:10.1016/S0306-4522(02)00698-X. PMID12535936. S2CID28204501.
Singh R, Andermann E, Whitehouse W, Harvey A, Keene D, Seni M, Crossland K, Andermann F, Berkovic S, Scheffer I (2001). "Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?". Epilepsia. 42 (7): 837–44. doi:10.1046/j.1528-1157.2001.042007837.x. PMID11488881. S2CID7256994.
Wallace R, Wang D, Singh R, Scheffer I, George A, Phillips H, Saar K, Reis A, Johnson E, Sutherland G, Berkovic S, Mulley J (1998). "Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B". Nat Genet. 19 (4): 366–70. doi:10.1038/1252. PMID9697698. S2CID20962841.
Tammaro P, Conti F, Moran O (2002). "Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation". Biochem Biophys Res Commun. 291 (4): 1095–101. doi:10.1006/bbrc.2002.6570. PMID11866477.
Lucas P, Meadows L, Nicholls J, Ragsdale D (2005). "An epilepsy mutation in the beta1 subunit of the voltage-gated sodium channel results in reduced channel sensitivity to phenytoin". Epilepsy Res. 64 (3): 77–84. doi:10.1016/j.eplepsyres.2005.03.003. PMID15922564. S2CID22127664.
Audenaert D, Claes L, Ceulemans B, Löfgren A, Van Broeckhoven C, De Jonghe P (2003). "A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy". Neurology. 61 (6): 854–6. doi:10.1212/01.wnl.0000080362.55784.1c. PMID14504340. S2CID20308172.
Cossette P, Loukas A, Lafrenière R, Rochefort D, Harvey-Girard E, Ragsdale D, Dunn R, Rouleau G (2003). "Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)". Epilepsy Res. 53 (1–2): 107–17. doi:10.1016/S0920-1211(02)00259-0. PMID12576172. S2CID38953878.
Kearney J, Wiste A, Stephani U, Trudeau M, Siegel A, RamachandranNair R, Elterman R, Muhle H, Reinsdorf J, Shields W, Meisler M, Escayg A (2006). "Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy". Pediatr Neurol. 34 (2): 116–20. doi:10.1016/j.pediatrneurol.2005.07.009. PMID16458823.
Escayg A, MacDonald B, Meisler M, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A (2000). "Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2". Nat Genet. 24 (4): 343–5. doi:10.1038/74159. PMID10742094. S2CID29543172.
Alekov A, Rahman M, Mitrovic N, Lehmann-Horn F, Lerche H (2001). "Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man". Eur J Neurosci. 13 (11): 2171–6. doi:10.1046/j.0953-816x.2001.01590.x. PMID11422459. S2CID15745798.
Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, Hirose S, Fukuma G, Mitsudome A, Wada K, Kaneko S (2002). "Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A". Epilepsy Res. 48 (1–2): 15–23. doi:10.1016/S0920-1211(01)00313-8. PMID11823106. S2CID25555020.
Ito M, Yamakawa K, Sugawara T, Hirose S, Fukuma G, Kaneko S (2006). "Phenotypes and genotypes in epilepsy with febrile seizures plus". Epilepsy Res. 70 (2–3 Suppl): 199–205. doi:10.1016/j.eplepsyres.2005.11.028. PMID16884893. S2CID994890.
Nagao Y, Mazaki-Miyazaki E, Okamura N, Takagi M, Igarashi T, Yamakawa K (2005). "A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures". Epilepsy Res. 63 (2–3): 151–6. doi:10.1016/j.eplepsyres.2004.11.005. PMID15715999. S2CID37140042.
Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme J, Baulac M, Brice A, Bruzzone R, LeGuern E (2001). "First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene". Nat Genet. 28 (1): 46–8. doi:10.1038/88254. PMID11326274.
Wallace R, Marini C, Petrou S, Harkin L, Bowser D, Panchal R, Williams D, Sutherland G, Mulley J, Scheffer I, Berkovic S (2001). "Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures". Nat Genet. 28 (1): 49–52. doi:10.1038/88259. PMID11326275.
Spampanato J, Escayg A, Meisler M, Goldin A (2003). "Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels". Neuroscience. 116 (1): 37–48. doi:10.1016/S0306-4522(02)00698-X. PMID12535936. S2CID28204501.
Singh R, Andermann E, Whitehouse W, Harvey A, Keene D, Seni M, Crossland K, Andermann F, Berkovic S, Scheffer I (2001). "Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?". Epilepsia. 42 (7): 837–44. doi:10.1046/j.1528-1157.2001.042007837.x. PMID11488881. S2CID7256994.
Wallace R, Wang D, Singh R, Scheffer I, George A, Phillips H, Saar K, Reis A, Johnson E, Sutherland G, Berkovic S, Mulley J (1998). "Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B". Nat Genet. 19 (4): 366–70. doi:10.1038/1252. PMID9697698. S2CID20962841.
Lucas P, Meadows L, Nicholls J, Ragsdale D (2005). "An epilepsy mutation in the beta1 subunit of the voltage-gated sodium channel results in reduced channel sensitivity to phenytoin". Epilepsy Res. 64 (3): 77–84. doi:10.1016/j.eplepsyres.2005.03.003. PMID15922564. S2CID22127664.
Audenaert D, Claes L, Ceulemans B, Löfgren A, Van Broeckhoven C, De Jonghe P (2003). "A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy". Neurology. 61 (6): 854–6. doi:10.1212/01.wnl.0000080362.55784.1c. PMID14504340. S2CID20308172.
Cossette P, Loukas A, Lafrenière R, Rochefort D, Harvey-Girard E, Ragsdale D, Dunn R, Rouleau G (2003). "Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)". Epilepsy Res. 53 (1–2): 107–17. doi:10.1016/S0920-1211(02)00259-0. PMID12576172. S2CID38953878.
Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, Ohfu M, Inoue T, Watanachai A, Kira R, Matsuo M, Muranaka H, Sofue F, Zhang B, Kaneko S, Mitsudome A, Hirose S (2004). "Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)". Epilepsia. 45 (2): 140–8. doi:10.1111/j.0013-9580.2004.15103.x. PMID14738421. S2CID26120232.
Escayg A, MacDonald B, Meisler M, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A (2000). "Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2". Nat Genet. 24 (4): 343–5. doi:10.1038/74159. PMID10742094. S2CID29543172.
Alekov A, Rahman M, Mitrovic N, Lehmann-Horn F, Lerche H (2001). "Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man". Eur J Neurosci. 13 (11): 2171–6. doi:10.1046/j.0953-816x.2001.01590.x. PMID11422459. S2CID15745798.
Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, Hirose S, Fukuma G, Mitsudome A, Wada K, Kaneko S (2002). "Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A". Epilepsy Res. 48 (1–2): 15–23. doi:10.1016/S0920-1211(01)00313-8. PMID11823106. S2CID25555020.
Ito M, Yamakawa K, Sugawara T, Hirose S, Fukuma G, Kaneko S (2006). "Phenotypes and genotypes in epilepsy with febrile seizures plus". Epilepsy Res. 70 (2–3 Suppl): 199–205. doi:10.1016/j.eplepsyres.2005.11.028. PMID16884893. S2CID994890.
Nagao Y, Mazaki-Miyazaki E, Okamura N, Takagi M, Igarashi T, Yamakawa K (2005). "A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures". Epilepsy Res. 63 (2–3): 151–6. doi:10.1016/j.eplepsyres.2004.11.005. PMID15715999. S2CID37140042.
