Τόμος 22 (2008) – Τεύχος 2 – Άρθρο 75 – Επιθεώρηση Κλινικής Φαρμακολογίας και Φαρμακοκινητικής-Διεθνής Έκδοση – Volume 22 (2008) – Issue 2 – Article 75 – Epitheorese Klinikes Farmakologias και Farmakokinetikes-International Edition

Title The first identified mutation associated to Alternating Hemiplegia of Childhood (AHC) in a Greek family: clinical and genetical approach 
Authors K. Nazos1,2, M.-T. Bassi1, N. Bresolin1  and K. Pantos2

1. Stem-cells Laboratory, Neurological Clinic, Medical School, University of Milan, Milan, Italy

2. Pharmacological Department, Medical School, University of Athens, Athens, Greece

Citation Nazos, K., Bassi, M.-T., Bresolin, N., Pantos, K.: The first identified mutation associated to Alternating Hemiplegia of Childhood (AHC) in a Greek family: clinical and genetical approach, Epitheorese Klin. Farmakol. Farmakokinet. 22(2): 256-258 (2008)
Publication Date 23-25 May 2008
Full Text Language English
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Keywords Alternating Hemiplegia of Childhood, AHC, Greek family, clinical, genetical approach.
Other Terms Review article
Summary
References 1. Ducros A., et al.: Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity. Ann. Neurol. 42: 585590 (1997)

2. Lance J.W.: Is alternating hemiplegia of childhood (AHC) a variant of migraine? Cephalalgia 20: 685 (2000)

3. Price E.M., Rice D.A., Lingrel J.B.: Stusture-function studies of Na,K-ATPase. Site directed mutagenesis of the border residues from H1-H2 extracellular domain of the α subunit. J. Biol. Chem. 265: 6638-6641 (1990)

4. Tottene A., et al.: Familial hemiplegic migraine mutations increase Ca influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons. Proc. Natl. Acad. Sci. USA 99: 13284-13289 (2002)

5. Mikati M.A., Maguire H., Barlow C.F., Ozelius L. Breakefield X.O., Klauck S.M., Korf B., O’Tuama S.L., Dangond F. A syndrome of autosomal dominant alternating hemiplegia: Clinical presentation mimicking intractable epilepsy; chromosomal studies and physiologic investigations. Neurology 42: 2251-2257 (1992)

6. Mikati M.A., Kramer U., Zupanc M.L., Shanahan R.J.: Alternating hemiplegia of chilhood: clinical manifestations and long term outcome. Pediatr. Neurol. 23: 134-141 (2000)

7.   Hu Y.K., Kaplan J.H.: Site-directed chemical labeling of extracellular loops in a membrane protein. The topology of the Na,K-ATPase, a subunit. J. Biol. Chem. 275: 19185-19191 (2000)

8. Petersen P.A., Rasmussen J.H., Jorgensen P.L.: Consequences of mutations to the phosphorylation site of the alpha-subunit of Na,K-ATPase for ATP binding and E1-E2 conformational equilibrium. Biochemistry 35(50): 16085-16093 (1996)

9. Juhaszova M., Blaustein M.P.: Na pump low and high ouabain affinity alpha subunit isoforms are differently described in cells. Proc. Natl. Acad. Sci. USA 94: 1800-1805 (1997)

10. Blau J.N., Whitty C.: Familial hemiplegic migraine. Lancet 2: 1115-1116 (1955)

11. Ophoff R.A., et al.: Familial hemiplegic migraine and episodic ataxis type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87: 543-552 (1996)

12. De Fusco M., Marconi R., Silvestri L. Atorino L., Rampoldi L., Morgante L., Balladio A., Aridon P., Casari G.: Haploinsufficiency of ATP1A2 encoding the Na/K pump alpha2 subunit associated with familial hemiglegic migraine type 2. Nat. Genet. 33: 192-196 (2003)

13. Sakuntabhai A., et al.: Mutations in ATP2A2 encoding a Ca pump, cause Darier disease. Nat. Genet. 21: 271-277 (1999)

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ΕΤΗΣΙΑ ΣΥΝΔΡΟΜΗ 2008 – ANNUAL SUBSCRIPTION 2008
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