de Silva S, Kuncl R, Griffin J, Cornblath D, Chavoustie S (1990). "Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family". Muscle Nerve. 13 (1): 21–6. doi:10.1002/mus.880130106. PMID2325698. S2CID24805255.
Miller T, Dias da Silva M, Miller H, Kwiecinski H, Mendell J, Tawil R, McManis P, Griggs R, Angelini C, Servidei S, Petajan J, Dalakas M, Ranum L, Fu Y, Ptácek L (2004). "Correlating phenotype and genotype in the periodic paralyses". Neurology. 63 (9): 1647–55. doi:10.1212/01.wnl.0000143383.91137.00. PMID15534250. S2CID36507153.
Plassart E, Eymard B, Maurs L, Hauw J, Lyon-Caen O, Fardeau M, Fontaine B (1996). "Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene". J Neurol Sci. 142 (1–2): 126–33. doi:10.1016/0022-510X(96)00173-6. PMID8902732. S2CID8785846.
Ptácek L, George A, Griggs R, Tawil R, Kallen R, Barchi R, Robertson M, Leppert M (1991). "Identification of a mutation in the gene causing hyperkalemic periodic paralysis". Cell. 67 (5): 1021–7. doi:10.1016/0092-8674(91)90374-8. PMID1659948. S2CID12539865.
McClatchey A, Van den Bergh P, Pericak-Vance M, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines J, Bird T, Brown R (1992). "Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita". Cell. 68 (4): 769–74. doi:10.1016/0092-8674(92)90151-2. PMID1310898. S2CID31831830.
Ptacek L, Gouw L, Kwieciński H, McManis P, Mendell J, Barohn R, George A, Barchi R, Robertson M, Leppert M (1993). "Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis". Ann Neurol. 33 (3): 300–7. doi:10.1002/ana.410330312. PMID8388676. S2CID33366273.
Wagner S, Lerche H, Mitrovic N, Heine R, George A, Lehmann-Horn F (1997). "A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity". Neurology. 49 (4): 1018–25. doi:10.1212/wnl.49.4.1018. PMID9339683. S2CID18008683.
Okuda S, Kanda F, Nishimoto K, Sasaki R, Chihara K (2001). "Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation". J Neurol. 248 (11): 1003–4. doi:10.1007/s004150170059. PMID11757950. S2CID26927085.
Ptácek L, George A, Barchi R, Griggs R, Riggs J, Robertson M, Leppert M (1992). "Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita". Neuron. 8 (5): 891–7. doi:10.1016/0896-6273(92)90203-P. PMID1316765. S2CID41160865.
Meyer-Kleine C, Otto M, Zoll B, Koch M (1994). "Molecular and genetic characterization of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families". Hum Genet. 93 (6): 707–10. doi:10.1007/BF00201577. PMID8005599. S2CID39722069.
Lerche H, Mitrovic N, Dubowitz V, Lehmann-Horn F (1996). "Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle". Ann Neurol. 39 (5): 599–608. doi:10.1002/ana.410390509. PMID8619545. S2CID8092621.
Lehmann-Horn F, Rüdel R, Ricker K (1993). "Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4–6 October 1992, Ulm, Germany". Neuromuscul Disord. 3 (2): 161–8. doi:10.1016/0960-8966(93)90009-9. PMID7689382. S2CID20892960.
Lehmann-Horn F, Rüdel R, Ricker K, Lorković H, Dengler R, Hopf H (1983). "Two cases of adynamia episodica hereditaria: in vitro investigation of muscle cell membrane and contraction parameters". Muscle Nerve. 6 (2): 113–21. doi:10.1002/mus.880060206. PMID6304507. S2CID21594294.
Fontaine B, Khurana T, Hoffman E, Bruns G, Haines J, Trofatter J, Hanson M, Rich J, McFarlane H, Yasek D (1990). "Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene". Science. 250 (4983): 1000–2. Bibcode:1990Sci...250.1000F. doi:10.1126/science.2173143. PMID2173143.
Rojas C, Wang J, Schwartz L, Hoffman E, Powell B, Brown R (1991). "A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis". Nature. 354 (6352): 387–9. Bibcode:1991Natur.354..387R. doi:10.1038/354387a0. PMID1659668. S2CID4372717.
Heine R, Pika U, Lehmann-Horn F (1993). "A novel SCN4A mutation causing myotonia aggravated by cold and potassium". Hum Mol Genet. 2 (9): 1349–53. doi:10.1093/hmg/2.9.1349. PMID8242056.
Kelly P, Yang W, Costigan D, Farrell M, Murphy S, Hardiman O (1997). "Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype". Neuromuscul Disord. 7 (2): 105–11. doi:10.1016/S0960-8966(96)00429-4. PMID9131651. S2CID1174464.
Subramony S, Malhotra C, Mishra S (1983). "Distinguishing paramyotonia congenita and myotonia congenita by electromyography". Muscle Nerve. 6 (5): 374–9. doi:10.1002/mus.880060506. PMID6888415. S2CID20268646.
Streib E; Lane, Russell J. M.; Turnbull, Douglass M.; Hudgson, Peter; Walton, John; Brumback, Roger A.; Gerst, Jeffery W.; Heckmatt, John Z.; et al. (1984). "Evoked response testing in myotonic syndromes". Muscle Nerve. 7 (7): 590–2. doi:10.1002/mus.880070709. PMID6544373. S2CID222015799.
Fontaine B, Khurana T, Hoffman E, Bruns G, Haines J, Trofatter J, Hanson M, Rich J, McFarlane H, Yasek D (1990). "Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene". Science. 250 (4983): 1000–2. Bibcode:1990Sci...250.1000F. doi:10.1126/science.2173143. PMID2173143.
Rojas C, Wang J, Schwartz L, Hoffman E, Powell B, Brown R (1991). "A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis". Nature. 354 (6352): 387–9. Bibcode:1991Natur.354..387R. doi:10.1038/354387a0. PMID1659668. S2CID4372717.
de Silva S, Kuncl R, Griffin J, Cornblath D, Chavoustie S (1990). "Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family". Muscle Nerve. 13 (1): 21–6. doi:10.1002/mus.880130106. PMID2325698. S2CID24805255.
Miller T, Dias da Silva M, Miller H, Kwiecinski H, Mendell J, Tawil R, McManis P, Griggs R, Angelini C, Servidei S, Petajan J, Dalakas M, Ranum L, Fu Y, Ptácek L (2004). "Correlating phenotype and genotype in the periodic paralyses". Neurology. 63 (9): 1647–55. doi:10.1212/01.wnl.0000143383.91137.00. PMID15534250. S2CID36507153.
Plassart E, Eymard B, Maurs L, Hauw J, Lyon-Caen O, Fardeau M, Fontaine B (1996). "Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene". J Neurol Sci. 142 (1–2): 126–33. doi:10.1016/0022-510X(96)00173-6. PMID8902732. S2CID8785846.
Ptácek L, George A, Griggs R, Tawil R, Kallen R, Barchi R, Robertson M, Leppert M (1991). "Identification of a mutation in the gene causing hyperkalemic periodic paralysis". Cell. 67 (5): 1021–7. doi:10.1016/0092-8674(91)90374-8. PMID1659948. S2CID12539865.
McClatchey A, Van den Bergh P, Pericak-Vance M, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines J, Bird T, Brown R (1992). "Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita". Cell. 68 (4): 769–74. doi:10.1016/0092-8674(92)90151-2. PMID1310898. S2CID31831830.
Ptacek L, Gouw L, Kwieciński H, McManis P, Mendell J, Barohn R, George A, Barchi R, Robertson M, Leppert M (1993). "Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis". Ann Neurol. 33 (3): 300–7. doi:10.1002/ana.410330312. PMID8388676. S2CID33366273.
Wagner S, Lerche H, Mitrovic N, Heine R, George A, Lehmann-Horn F (1997). "A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity". Neurology. 49 (4): 1018–25. doi:10.1212/wnl.49.4.1018. PMID9339683. S2CID18008683.
Okuda S, Kanda F, Nishimoto K, Sasaki R, Chihara K (2001). "Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation". J Neurol. 248 (11): 1003–4. doi:10.1007/s004150170059. PMID11757950. S2CID26927085.
Ptácek L, George A, Barchi R, Griggs R, Riggs J, Robertson M, Leppert M (1992). "Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita". Neuron. 8 (5): 891–7. doi:10.1016/0896-6273(92)90203-P. PMID1316765. S2CID41160865.
Meyer-Kleine C, Otto M, Zoll B, Koch M (1994). "Molecular and genetic characterization of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families". Hum Genet. 93 (6): 707–10. doi:10.1007/BF00201577. PMID8005599. S2CID39722069.
Lerche H, Mitrovic N, Dubowitz V, Lehmann-Horn F (1996). "Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle". Ann Neurol. 39 (5): 599–608. doi:10.1002/ana.410390509. PMID8619545. S2CID8092621.
Lehmann-Horn F, Rüdel R, Ricker K (1993). "Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4–6 October 1992, Ulm, Germany". Neuromuscul Disord. 3 (2): 161–8. doi:10.1016/0960-8966(93)90009-9. PMID7689382. S2CID20892960.
Lehmann-Horn F, Rüdel R, Ricker K, Lorković H, Dengler R, Hopf H (1983). "Two cases of adynamia episodica hereditaria: in vitro investigation of muscle cell membrane and contraction parameters". Muscle Nerve. 6 (2): 113–21. doi:10.1002/mus.880060206. PMID6304507. S2CID21594294.
Fontaine B, Khurana T, Hoffman E, Bruns G, Haines J, Trofatter J, Hanson M, Rich J, McFarlane H, Yasek D (1990). "Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene". Science. 250 (4983): 1000–2. Bibcode:1990Sci...250.1000F. doi:10.1126/science.2173143. PMID2173143.
Rojas C, Wang J, Schwartz L, Hoffman E, Powell B, Brown R (1991). "A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis". Nature. 354 (6352): 387–9. Bibcode:1991Natur.354..387R. doi:10.1038/354387a0. PMID1659668. S2CID4372717.
Heine R, Pika U, Lehmann-Horn F (1993). "A novel SCN4A mutation causing myotonia aggravated by cold and potassium". Hum Mol Genet. 2 (9): 1349–53. doi:10.1093/hmg/2.9.1349. PMID8242056.
Kelly P, Yang W, Costigan D, Farrell M, Murphy S, Hardiman O (1997). "Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype". Neuromuscul Disord. 7 (2): 105–11. doi:10.1016/S0960-8966(96)00429-4. PMID9131651. S2CID1174464.
Subramony S, Malhotra C, Mishra S (1983). "Distinguishing paramyotonia congenita and myotonia congenita by electromyography". Muscle Nerve. 6 (5): 374–9. doi:10.1002/mus.880060506. PMID6888415. S2CID20268646.
Streib E; Lane, Russell J. M.; Turnbull, Douglass M.; Hudgson, Peter; Walton, John; Brumback, Roger A.; Gerst, Jeffery W.; Heckmatt, John Z.; et al. (1984). "Evoked response testing in myotonic syndromes". Muscle Nerve. 7 (7): 590–2. doi:10.1002/mus.880070709. PMID6544373. S2CID222015799.
de Silva S, Kuncl R, Griffin J, Cornblath D, Chavoustie S (1990). "Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family". Muscle Nerve. 13 (1): 21–6. doi:10.1002/mus.880130106. PMID2325698. S2CID24805255.
Miller T, Dias da Silva M, Miller H, Kwiecinski H, Mendell J, Tawil R, McManis P, Griggs R, Angelini C, Servidei S, Petajan J, Dalakas M, Ranum L, Fu Y, Ptácek L (2004). "Correlating phenotype and genotype in the periodic paralyses". Neurology. 63 (9): 1647–55. doi:10.1212/01.wnl.0000143383.91137.00. PMID15534250. S2CID36507153.
Plassart E, Eymard B, Maurs L, Hauw J, Lyon-Caen O, Fardeau M, Fontaine B (1996). "Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene". J Neurol Sci. 142 (1–2): 126–33. doi:10.1016/0022-510X(96)00173-6. PMID8902732. S2CID8785846.
Ptácek L, George A, Griggs R, Tawil R, Kallen R, Barchi R, Robertson M, Leppert M (1991). "Identification of a mutation in the gene causing hyperkalemic periodic paralysis". Cell. 67 (5): 1021–7. doi:10.1016/0092-8674(91)90374-8. PMID1659948. S2CID12539865.
McClatchey A, McKenna-Yasek D, Cros D, Worthen H, Kuncl R, DeSilva S, Cornblath D, Gusella J, Brown R (1992). "Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel". Nat Genet. 2 (2): 148–52. doi:10.1038/ng1092-148. PMID1338909. S2CID12492661.
McClatchey A, Van den Bergh P, Pericak-Vance M, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines J, Bird T, Brown R (1992). "Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita". Cell. 68 (4): 769–74. doi:10.1016/0092-8674(92)90151-2. PMID1310898. S2CID31831830.
Ptacek L, Gouw L, Kwieciński H, McManis P, Mendell J, Barohn R, George A, Barchi R, Robertson M, Leppert M (1993). "Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis". Ann Neurol. 33 (3): 300–7. doi:10.1002/ana.410330312. PMID8388676. S2CID33366273.
Wagner S, Lerche H, Mitrovic N, Heine R, George A, Lehmann-Horn F (1997). "A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity". Neurology. 49 (4): 1018–25. doi:10.1212/wnl.49.4.1018. PMID9339683. S2CID18008683.
Okuda S, Kanda F, Nishimoto K, Sasaki R, Chihara K (2001). "Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation". J Neurol. 248 (11): 1003–4. doi:10.1007/s004150170059. PMID11757950. S2CID26927085.
Ptácek L, George A, Barchi R, Griggs R, Riggs J, Robertson M, Leppert M (1992). "Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita". Neuron. 8 (5): 891–7. doi:10.1016/0896-6273(92)90203-P. PMID1316765. S2CID41160865.
Meyer-Kleine C, Otto M, Zoll B, Koch M (1994). "Molecular and genetic characterization of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families". Hum Genet. 93 (6): 707–10. doi:10.1007/BF00201577. PMID8005599. S2CID39722069.
Lerche H, Mitrovic N, Dubowitz V, Lehmann-Horn F (1996). "Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle". Ann Neurol. 39 (5): 599–608. doi:10.1002/ana.410390509. PMID8619545. S2CID8092621.
Lehmann-Horn F, Rüdel R, Ricker K (1993). "Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4–6 October 1992, Ulm, Germany". Neuromuscul Disord. 3 (2): 161–8. doi:10.1016/0960-8966(93)90009-9. PMID7689382. S2CID20892960.
Lehmann-Horn F, Rüdel R, Ricker K, Lorković H, Dengler R, Hopf H (1983). "Two cases of adynamia episodica hereditaria: in vitro investigation of muscle cell membrane and contraction parameters". Muscle Nerve. 6 (2): 113–21. doi:10.1002/mus.880060206. PMID6304507. S2CID21594294.
Rojas C, Wang J, Schwartz L, Hoffman E, Powell B, Brown R (1991). "A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis". Nature. 354 (6352): 387–9. Bibcode:1991Natur.354..387R. doi:10.1038/354387a0. PMID1659668. S2CID4372717.
Kelly P, Yang W, Costigan D, Farrell M, Murphy S, Hardiman O (1997). "Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype". Neuromuscul Disord. 7 (2): 105–11. doi:10.1016/S0960-8966(96)00429-4. PMID9131651. S2CID1174464.
Subramony S, Malhotra C, Mishra S (1983). "Distinguishing paramyotonia congenita and myotonia congenita by electromyography". Muscle Nerve. 6 (5): 374–9. doi:10.1002/mus.880060506. PMID6888415. S2CID20268646.
Streib E; Lane, Russell J. M.; Turnbull, Douglass M.; Hudgson, Peter; Walton, John; Brumback, Roger A.; Gerst, Jeffery W.; Heckmatt, John Z.; et al. (1984). "Evoked response testing in myotonic syndromes". Muscle Nerve. 7 (7): 590–2. doi:10.1002/mus.880070709. PMID6544373. S2CID222015799.
