Familial hemiplegic migraine

（重定向自Hemiplegic migraine）

The crystal structure of the Na+/K+-ATPase with FHM2 mutations noted in purple. The N-terminus is colored blue and the C-terminus red. The approximate location of the cell membrane is noted. The original pdb file is available here.

Familial hemiplegic migraine (FHM) is an autosomal dominant classical migraine subtype that typically includes weakness of half the body which can last for hours, days or weeks. It can be accompanied by other symptoms, such as ataxia, coma and paralysis. There is clinical overlap in some FHM patients with episodic ataxia type 2 and spinocerebellar ataxia type 6, benign familial infantile epilepsy, and alternating hemiplegia of childhood. There are 3 known loci for FHM. FHM1, which accounts for approximately 50% of FHM patients, is caused by mutations in a gene coding for the P/Q-type calcium channel α subunit, CACNA1A. FHM1 is also associated with cerebellar degeneration. FHM2, which accounts for <25% of FHM cases, is caused by mutations in the Na+/K+-ATPase gene ATP1A2. FHM3 is a rare subtype of FHM and is caused by mutations in a sodium channel α-subunit coding gene, SCN1A. These three subtypes do not account for all cases of FHM, suggesting the existence of at least one other locus (FHM4). Many of the non-familial cases of hemiplegic migraine (sporadic hemiplegic migraine) are also caused by mutations at these loci. A fourth gene that has been associated with this condition is the proline rich transmembrane protein 2 (PRRT2) - an axonal protein associated with the exocytosis complex. A fifth gene associated with this condition is SLC4A4 which encodes the electrogenic NaHCO3cotransporter NBCe1.

单词	Hemiplegic migraine
释义	Hemiplegic migraine 英语百科 Familial hemiplegic migraine （重定向自Hemiplegic migraine） Familial hemiplegic migraine (FHM) is an autosomal dominant classical migraine subtype that typically includes weakness of half the body which can last for hours, days or weeks. It can be accompanied by other symptoms, such as ataxia, coma and paralysis. There is clinical overlap in some FHM patients with episodic ataxia type 2 and spinocerebellar ataxia type 6, benign familial infantile epilepsy, and alternating hemiplegia of childhood. There are 3 known loci for FHM. FHM1, which accounts for approximately 50% of FHM patients, is caused by mutations in a gene coding for the P/Q-type calcium channel α subunit, CACNA1A. FHM1 is also associated with cerebellar degeneration. FHM2, which accounts for <25% of FHM cases, is caused by mutations in the Na+/K+-ATPase gene ATP1A2. FHM3 is a rare subtype of FHM and is caused by mutations in a sodium channel α-subunit coding gene, SCN1A. These three subtypes do not account for all cases of FHM, suggesting the existence of at least one other locus (FHM4). Many of the non-familial cases of hemiplegic migraine (sporadic hemiplegic migraine) are also caused by mutations at these loci. A fourth gene that has been associated with this condition is the proline rich transmembrane protein 2 (PRRT2) - an axonal protein associated with the exocytosis complex. A fifth gene associated with this condition is SLC4A4 which encodes the electrogenic NaHCO3cotransporter NBCe1.
随便看	shark oils的意思 Sharkovskii sequence的意思 Shark Ray的意思 shark ray oil的意思 Shark Reef的意思 shark repellant的意思 shark repellent的意思 shark repellent的意思 sharks的意思 sharksfin的意思 sharkship的意思 shark siren的意思 sharkskin的意思 Shark skin的意思 shark skin disease of porphyra filament的意思 sharkskin fabric的意思 sharkskin pahoehoe的意思 sharkskin phenomena的意思 sharkskin的意思 shark slice,dried的意思 sharks manner的意思 shark s manner的意思 sharks manners的意思 shark s manners的意思 sharksploitation的意思