Two Norwegian families illustrating the problem of genotype and phenotype in frontal lobe epilepsy
K. O. Nakken,
E. Brodtkorb,
K. O. Nakken
The National Center for Epilepsy, P.O.Box 900, 1303 Sandvika, Norway,
Search for more papers by this authorE. Brodtkorb
Department of Neurology, Trondheim University Hospital, 7006 Trondheim, Norway
Search for more papers by this authorK. O. Nakken,
E. Brodtkorb,
K. O. Nakken
The National Center for Epilepsy, P.O.Box 900, 1303 Sandvika, Norway,
Search for more papers by this authorE. Brodtkorb
Department of Neurology, Trondheim University Hospital, 7006 Trondheim, Norway
Search for more papers by this authorFirst published: 02 January 2002
References
- 1 Scheffer IE, Bhatia KP & Lopes-Cendes I et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 1994; 343: 515–517.
- 2 Phillips HA, Scheffer IE, Bercovic SF, Hollway GE, Sutherland GR & Mulley JC. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nat Genet 1995; 10: 117–8.
- 3 Nakken KO, Magnusson A & Steinlein OK. Autosomal dominant nocturnal frontal lobe epilepsy: An electroclinical study of a Norwegian family with ten affected members. Epilepsia 1999; 40: 88–92.
- 4 Steinlein OK, Stoodt J, Mulley J, Berkovic S, Scheffer IE & Brodtkorb E. Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. Epilepsia 2000; 41: 529–35.
- 5 Steinlein OK, Magnusson A & Stoodt J et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 1997; 6: 943–7.
- 6 Weiland S, Witzemann V, Villarroel A, Propping P & Steinlein OK. An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS Letters 1996; 398: 91–6.
- 7 Steriade M, McCormick DA & Sejnowski TJ. Thalamocortical oscillations in the sleeping and aroused brain. Science 1993; 262: 679–85.
- 8 Scheffer IE, Bhatia KP & Lopes-Cendes I et al. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain 1995; 118: 61–73.
- 9 Lugaresi E, Cirignotta F & Montagna P. Nocturnal paroxysmal dystonia. J Neurol Neurosurg Psychiatry 1986; 49: 375–80.
- 10 Williamson PD. Frontal lobe epilepsy: some clinical characteristics. In: HH Jasper, S Riggio, PS Goldman-Rakic, eds. Epilepsy and the functional anatomy of the frontal lobe. (Advances in Neurology; vol 66). New York: Raven Press, 1995; 127–52.
- 11 Hirsch E, Sellal F, Maton B, Rumbach L & Marescaux C. Nocturnal paroxysmal dystonia: a clinical form of focal epilepsy. Neurophysiol Clin 1994; 24: 207–17.
