Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine

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

[2]  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.

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

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

[5]  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.

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

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

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

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

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

[11]  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.

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

[13]  M. Ferrari,et al.  Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. , 2003, Archives of neurology.

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

[15]  K. Gardner,et al.  Physical mapping and characterization of the human Na,K-ATPase isoform, ATP1A4. , 2002, Gene.

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

[17]  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.

[18]  M. Nakasako,et al.  Crystal structure of the calcium pump of sarcoplasmic reticulum at 2.6 Å resolution , 2000, Nature.

[19]  R. Ophoff,et al.  Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine , 1998, Neurology.

[20]  A. Verier,et al.  Mapping of a second locus for familial hemiplegic migraine to 1q21–q23 and evidence of further heterogeneity , 1997, Annals of neurology.

[21]  M. Barmada,et al.  A new locus for hemiplegic migraine maps to chromosome 1q31 , 1997, Neurology.

[22]  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.

[23]  T. Pressley Phylogenetic conservation of isoform-specific regions within alpha-subunit of Na(+)-K(+)-ATPase. , 1992, The American journal of physiology.

[24]  E. M. Price,et al.  Structure-function studies of Na,K-ATPase. Site-directed mutagenesis of the border residues from the H1-H2 extracellular domain of the alpha subunit. , 1990, The Journal of biological chemistry.

[25]  D. Clarke,et al.  Functional consequences of alterations to polar amino acids located in the transmembrane domain of the Ca2(+)-ATPase of sarcoplasmic reticulum. , 1990, The Journal of biological chemistry.

[26]  C Summers,et al.  Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). , 1989, Nucleic acids research.

[27]  Shirley A. Miller,et al.  A simple salting out procedure for extracting DNA from human nucleated cells. , 1988, Nucleic acids research.

[28]  J. Horisberger,et al.  Functional effects of Na+,K+-ATPase gene mutations linked to familial hemiplegic migraine , 2007, NeuroMolecular Medicine.

[29]  K. Axelsen,et al.  Evolution of Substrate Specificities in the P-Type ATPase Superfamily , 1998, Journal of Molecular Evolution.

[30]  E. Hoffman,et al.  The Calculation of Genetic Risks: Worked Examples in DNA Diagnostics , 1995 .