A de novo mutation in sporadic nocturnal frontal lobe epilepsy

Autosomal dominant nocturnal frontal lobe epilepsy is sometimes due to mutations in CHRNA4. The commoner presentation of sporadic nocturnal frontal lobe epilepsy has not been associated with genetic defects. A 30‐year‐old woman diagnosed as having sporadic nocturnal frontal lobe epilepsy was found to have a de novo Ser252Leu CHRNA4 mutation. A pattern is emerging of site‐specific mutation within the second transmembrane domain of CHRNA4 in association with autosomal dominant nocturnal frontal lobe epilepsy and sporadic nocturnal frontal lobe epilepsy in families with different ethnic backgrounds. Ann Neurol 2000;48:264–267

[1]  I. Scheffer,et al.  Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy , 2000, Epilepsia.

[2]  Katsuhiro Kobayashi,et al.  A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy , 1999, Neurology.

[3]  J. Prud'homme,et al.  Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. , 1999, Archives of neurology.

[4]  D. Bertrand,et al.  Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy , 1998, British journal of pharmacology.

[5]  C. Marsden,et al.  Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. , 1998, American journal of human genetics.

[6]  M. Modugno,et al.  Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. , 1998, Brain : a journal of neurology.

[7]  V. Gerzanich,et al.  Mutation Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Alters Ca2+ Permeability, Conductance, and Gating of Human α4β2 Nicotinic Acetylcholine Receptors , 1997, The Journal of Neuroscience.

[8]  I. Scheffer,et al.  Autosomal dominant nocturnal frontal lobe epilepsy: Demonstration of focal frontal onset and intrafamilial variation , 1997, Neurology.

[9]  D Bertrand,et al.  An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. , 1997, Human molecular genetics.

[10]  O. Steinlein,et al.  An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics , 1996, FEBS letters.

[11]  I. Scheffer,et al.  A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy , 1995, Nature Genetics.

[12]  C. Marsden,et al.  Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. , 1995, Brain : a journal of neurology.

[13]  C. Marsden,et al.  Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder , 1994, The Lancet.

[14]  J. Changeux,et al.  Functional architecture of the nicotinic acetylcholine receptor: A prototype of ligand-gated ion channels , 1993, The Journal of Membrane Biology.

[15]  N. Unwin.  Nicotinic acetylcholine receptor at 9 A resolution. , 1993, Journal of molecular biology.

[16]  Takashi Miyata,et al.  Primary structure of α-subunit precursor of Torpedo californica acetylcholine receptor deduced from cDNA sequence , 1982, Nature.