Epilepsy as part of the phenotype associated with ATP1A2 mutations

Purpose: Mutations in the ATP1A2 gene have been described in families with familial hemiplegic migraine (FHM). FHM is a variant of migraine with aura characterized by the occurrence of hemiplegia during the aura. Within several FHM families, some patients also had epileptic seizures. In this study we tested the hypothesis that mutations in ATP1A2 may be common in patients presenting with epilepsy and migraine.

[1]  H. Stefánsson,et al.  The genetic spectrum of a population-based sample of familial hemiplegic migraine. , 2007, Brain : a journal of neurology.

[2]  M. Ferrari,et al.  Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine , 2006, European Journal of Human Genetics.

[3]  C. Caltagirone,et al.  A Novel ATP1A2 Mutation in a Family with FHM Type II , 2006, Cephalalgia : an international journal of headache.

[4]  M. Ferrari,et al.  Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation , 2006, Annals of neurology.

[5]  F. Pierelli,et al.  Familial basilar migraine associated with a new mutation in the ATP1A2 gene , 2005, Neurology.

[6]  G. Comi,et al.  No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures , 2005, Neuroscience Letters.

[7]  M. Dichgans,et al.  Rare missense variants in ATP1A2 in families with clustering of common forms of migraine , 2005, Human mutation.

[8]  P. Aridon,et al.  ATP1A2 mutations in 11 families with familial hemiplegic migraine , 2005, Human mutation.

[9]  E. Purisima,et al.  Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[10]  D. Pietrobon,et al.  Migraine: New Molecular Mechanisms , 2005, The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry.

[11]  T. Strom,et al.  Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine , 2005, The Lancet.

[12]  W. Berrettini,et al.  No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium–potassium-transporting ATPase and idiopathic generalized epilepsy , 2005, Neuroscience Letters.

[13]  E. Bamberg,et al.  Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation. , 2005, Biochimica et biophysica acta.

[14]  Peter De Rijk,et al.  SNPbox: a modular software package for large-scale primer design , 2005, Bioinform..

[15]  A. Palotie,et al.  Kinetic Alterations due to a Missense Mutation in the Na,K-ATPase α2 Subunit Cause Familial Hemiplegic Migraine Type 2* , 2004, Journal of Biological Chemistry.

[16]  M. Ferrari,et al.  Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation , 2004, Neurology.

[17]  F. Lehmann-Horn,et al.  A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs , 2004, Neurogenetics.

[18]  N. Bresolin,et al.  A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood , 2004, Journal of Medical Genetics.

[19]  M. Leppert,et al.  Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation , 2004, Annals of neurology.

[20]  M. Dichgans,et al.  Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants , 2004, Neurology.

[21]  A. Palotie,et al.  A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2 , 2004, Neurogenetics.

[22]  W. van Paesschen,et al.  The development of hippocampal sclerosis in a patient with occipital lobe epilepsy and migraine , 2004, Neurology.

[23]  Jes Olesen,et al.  The International Classification of Headache Disorders: 2nd edition. , 2004, Cephalalgia : an international journal of headache.

[24]  J. Hottenga,et al.  Novel mutations in the Na+, K+‐ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions , 2003, Annals of neurology.

[25]  A. Ballabio,et al.  Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23 , 2003, Annals of neurology.

[26]  J. Ramirez,et al.  The Na,K-ATPase α2 Isoform Is Expressed in Neurons, and Its Absence Disrupts Neuronal Activity in Newborn Mice* , 2003, The Journal of Biological Chemistry.

[27]  A. Ballabio,et al.  Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2 , 2003, Nature Genetics.

[28]  P. Cortelli,et al.  Familial hemiplegic migraine: clinical features and probable linkage to chromosome 1 in an Italian family , 2002, Neurological Sciences.

[29]  E. Vicaut,et al.  The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. , 2001, The New England journal of medicine.

[30]  S. Antonarakis,et al.  Nomenclature for the description of human sequence variations , 2001, Human Genetics.

[31]  M. Sperling,et al.  Lack of association between temporal lobe epilepsy and a novel polymorphism in the alpha 2 subunit gene (ATP1A2) of the sodium potassium transporting ATPase. , 2000, American journal of medical genetics.

[32]  L. Sandkuijl,et al.  Partial Cosegregation of Familial Hemiplegic Migraine and a Benign Familial Infantile Epileptic Syndrome , 1997, Epilepsia.

[33]  D. Fambrough,et al.  Subunit Interactions in the Na,K-ATPase Explored with the Yeast Two-hybrid System* , 1997, The Journal of Biological Chemistry.

[34]  R. Lipton,et al.  Prevalence and impact of migraine. , 1997, Neurologic clinics.

[35]  Dennis E Bulman,et al.  Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4 , 1996, Cell.

[36]  R. Lipton,et al.  Is the comorbidity of epilepsy and migraine due to a shared genetic susceptibility? , 1996, Neurology.

[37]  J. Møller,et al.  Structural organization, ion transport, and energy transduction of P-type ATPases. , 1996, Biochimica et biophysica acta.

[38]  T. Olsen,et al.  Pathophysiology of the migraine aura: the spreading depression theory. , 1995, Brain : a journal of neurology.

[39]  Richard B. Lipton,et al.  Comorbidity of migraine and epilepsy , 1994, Neurology.

[40]  M. Lauritzen,et al.  Pathophysiology of the migraine aura. The spreading depression theory. , 1994, Brain : a journal of neurology.

[41]  T. Kurashige,et al.  Proposal for Revised Classification of Epilepsies and Epileptic Syndromes , 1989, No to hattatsu = Brain and development.

[42]  W. Hauser,et al.  Prevalence of Epilepsy in Rochester, Minnesota: 1940–1980 , 1991, Epilepsia.

[43]  Jorge Eslava‐Cobos,et al.  Experience with the International League Against Epilepsy Proposals for Classification of Epileptic Seizures and the Epilepsies and Epileptic Syndromes in a Pediatric Outpatient Epilepsy Clinic , 1989, Epilepsia.

[44]  P. Kellaway,et al.  Proposal for Revised Clinical and Electroencephalographic Classification of Epileptic Seizures , 1981, Epilepsia.

[45]  R. Press,et al.  Proposal for Revised Clinical and ~lectro~nce~halo ~ra~hic Classification of Epileptic Seizures From the Commission on Classification and Terminology of the International League Against Epilepsy* , 1981 .