
autosomal pramukh nishaachar frontal lobe mirgi

autosomal pramukh nishaachar frontal lobe mirgi ack mirgi vikaar haye joe neend key dauran aksar hinsak daure kaa kaaran banata haye. inn daure mein aksar jatil motor andolan shamil hotey hain, jaise kii haath pakadana, haath uthaana/cumm karna aur ghutane jhukaana. chillana, karahana yaa rona jaisi aavaazen bhee aam hain. adenfel koo aksar burey sapanon key roop mein galat nidan kiya jaataa haye. hamale aksar samoohon mein hotey hain aur aamtaur parr bachpan mein pahali baar prakat hotey hain. adenfel key liye chaar gyaat sthaan hain, teen gyaat karanatmak jeane key saath. yeye jeane, "chrna4", "chrnb2", aur "chrna2", vibhinn nicotinic acetylcholine receptor α aur β upa-ikaaiyon koo kootbaddh karate hain.
sanket aur lakshan.
adenfel ack aanshik mirgi vikaar haye jisaki visheshta neend key dauran sankshipt hinsak daure hain. daure jatil hotey hain, jisamen haath aur pair kii harkatein, mutthi pakadana aur chillana aur karahana jaise swar shamil hotey hain. yeye daure aksar samoohon mein hotey hain aur bachpan mein pahali baar prakat hoe sakate hain. nidan aksar shuru mein galat tareeke seey burey sapane, raat key darr, parjivi aur vibhinn manorog vikaaron key roop mein kiya jaataa haye.
kaaran.
halanki achchi tarah seey samajha naheen gayaa haye, yeh maanaa jaataa haye kii thalamocortical loop mein kharabi adenfel mein mahatvapurna bhoomika nibhaati haye. iss vishvaas key teen kaaran hain. sabse pahale, thalamocortical loop neend mein mahatvapurna hotey hain aur frontal cortex adenfel daure kii utpatti haye. doosara, thalamus aur cortex donon koo collinergic input praapt hotey hain aur acetylcholine receptor upa-ikaaiyon mein adenfel key liye teen gyaat karanatmak jeane shamil hotey hain. teesara, key-complexes lagbhag hamesha daure kii shuruat mein maujood hotey hain.
aisaa maanaa jaataa haye kii mirgi isaliye hoti haye kyonki yeye receptor upa-ikaaiyaan neurons dwara purvanirdhaarit roop seey vyakt kii jaati hain joe avarodhak transmitter gaaba koo chhodati hain. isaliye, α4 upa-ikai mein utparivartan seey gaaba release cumm hoe sakati haye, jisase atee-praapti hoe sakati haye.
pathophysiology.
"chrna4".
adenfel seey judaa pahala utparivartan 248 (aiss248aff) kii sthiti mein ack serin seey phenylanine sankraman haye, joe ack nicotinic acetylcholine receptor α4 upa-ikai koo encoding karane vaale jeane key dusare transmembrane kshetra mein sthit haye. maanav "chrna4" protein parr adharit sankhya kaa upayog karate hue, iss utparivartan koo s280f kahaa jaataa haye. iss utparivarti upa-ikai vaale receptors karyatmak hotey hain, lekin kewal jangli prakaar key receptors kii tulanaa mein bahut tej gati seey asamvedansheel hotey hain. yeye utparivarti receptors bhee kewal jangli prakaar key receptors kii tulanaa mein bahut dheemi darr seey desensitization seey ubarate hain. inn utparivarti receptors mein jangli prakaar kii tulanaa mein ekal channel chaalakta bhee cumm hoti haye aur acetylcholine key liye cumm lagaav hotaa haye. yeh bhee mahatvapurna haye kii "chrna4" mein anya key saath yeh utparivartan receptors koo calcium key prati cumm samvedansheel banaata haye.
doosara khoj kiya gayaa adenfel utparivartan bhee "chrna4" mein thaa. yeh utparivartan, l259 _ i260insl, lucine amino acid aur ack isolacin key khinchaav key beach teen nucleotides (jee. see. tii.) key sammilan key kaaran hotaa haye. aiss248aff utparivartan key saath, ell259 _ aaee260insal utparivartan dusare transmembrane kshetra mein sthit haye. electrophysiological prayogon seey pataa chalaa haye kii yeh utparivarti jangli prakaar kii tulanaa mein acetylcholine key prati duss gunaa adhik samvedansheel haye. halanki, jangli prakaar vaale receptors kii tulanaa mein utparivarti mein calcium pargamyata mein ullekhaniya roop seey kamee aaee haye. isake alawa, yeh utparivarti jangli-prakaar aur aiss248aff utparivarti receptors donon kii tulanaa mein mund samvedanheenta dikhaata haye.
dusare paar jhilli kshetra mein bhee sthit, aiss252ell utparivartan bhee adenfel key saath judaa huaa haye. yeh utparivarti jangli prakaar key receptors kii tulanaa mein acetylcholine key liye teji seey asamvedansheelta key liye badhee hui aatmiyata pradarshit kartaa haye.
adenfale seey judey "chrna4" mein sabse haal hii mein khoja gayaa utparivartan t265m haye, joe phir seey dusare transmembrane faile hue khand mein sthit haye. iss utparivartan kaa bahut cumm adhyayan kiya gayaa haye aur yeh sub gyaat haye kii yeh acetylcholine key prati badhee hui samvedansheelta key saath receptors kaa utpaadan kartaa haye aur isamen cumm pravesh hotaa haye.
15q24.
kuchh parivaaron koo "chrna4" mein utparivartan naheen dikhaaya gayaa haye aur isake alawa, isake aspas koee sambandh naheen dikhaaya gayaa haye. isake bajaay inmein seey kuchh parivaar gunasutra 15 (15q24) parr "chrna3", "chrna5" aur "chrnb4" key paas majboot sambandh dikhaate hain. iss kshetra mein kaarak jeane abhee bhee agyaat hain.
"chrnb2".
jeane "chrnb2" mein teen utparivartan paae gaye hain, joe ack acetylcholine receptor β2 upa-ikai koo kootbaddh kartaa haye. inmein seey dou utparivartan, v287l aur v287m, ack hii amino acid parr hotey hain, phir seey dusare transmembrane kshetra mein failate hain. v287l utparivartan key parinamswarup receptors mein jangli-prakaar kii tulanaa mein bahut dheemi darr seey asamvedansheelta cumm hoe jaati haye. jangli prakaar key receptors kii tulanaa mein v287m utparivarti acetylcholine key liye uchch aatmiyata pradarshit kartaa haye. chrna4" mein utparivartan key saath, yeye utparivarti receptors koo calcium key prati cumm samvedansheel banaate hain.
chrnb2" mein anya gyaat utparivartan i312m haye, joe teesari jhilli-failaav kshetra mein sthit haye. inn utparivarti upa-ikaaiyon vaale receptors jangli-prakaar key receptors kii tulanaa mein bahut badee dhaaraon aur acetylcholine key prati uchch samvedansheelta pradarshit karate hain.
"chrna2".
haal hii mein, aaee279aine utparivartan kii khoj "chrna2" key pahale transmembrane spain segment mein kii gaee haye, joe "chrna4" dwara encode kiye gaye naachar α4 key samaan ack nicotinic acetylcholine receptor α2 upa-ikai koo encode kartaa haye. yeh utparivarti jangli prakaar kii tulanaa mein acetylcholine aur aparivartit desensitization key prati uchch samvedansheelta dikhaata haye.
nidan.
nidan aamtaur parr rogi key itihas parr kiya jaataa haye, halanki ee. ee. jee. recording hamalon key dauran honey parr pushti curr sakati haye.
prabandhan.
mirgi-rodhi davaaon kaa upayog aam taur parr adenfel kaa mukabala karane key liye kiya jaataa haye. inn davaaon kii charcha mukhya mirgi lekh mein kii gaee haye.