ES2478624T3 - Métodos para el diagnóstico y el tratamiento de la epilepsia - Google Patents
Métodos para el diagnóstico y el tratamiento de la epilepsia Download PDFInfo
- Publication number
- ES2478624T3 ES2478624T3 ES04718885.9T ES04718885T ES2478624T3 ES 2478624 T3 ES2478624 T3 ES 2478624T3 ES 04718885 T ES04718885 T ES 04718885T ES 2478624 T3 ES2478624 T3 ES 2478624T3
- Authority
- ES
- Spain
- Prior art keywords
- smei
- mutation
- patient
- scn1a
- gene
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Expired - Lifetime
Links
- 238000000034 method Methods 0.000 title claims abstract description 36
- 238000003745 diagnosis Methods 0.000 title claims abstract description 12
- 206010015037 epilepsy Diseases 0.000 title description 29
- 238000011282 treatment Methods 0.000 title description 6
- 108090000623 proteins and genes Proteins 0.000 claims abstract description 67
- 230000035772 mutation Effects 0.000 claims abstract description 49
- 238000004458 analytical method Methods 0.000 claims abstract description 25
- 238000012163 sequencing technique Methods 0.000 claims abstract description 9
- 230000003466 anti-cipated effect Effects 0.000 claims abstract description 6
- 230000001105 regulatory effect Effects 0.000 claims abstract description 5
- 101000631760 Homo sapiens Sodium channel protein type 1 subunit alpha Proteins 0.000 claims abstract 27
- 201000007547 Dravet syndrome Diseases 0.000 claims abstract 20
- 102100028910 Sodium channel protein type 1 subunit alpha Human genes 0.000 claims abstract 20
- 230000004075 alteration Effects 0.000 claims description 51
- 239000000523 sample Substances 0.000 claims description 21
- 239000012634 fragment Substances 0.000 claims description 13
- 230000003321 amplification Effects 0.000 claims description 9
- 238000003199 nucleic acid amplification method Methods 0.000 claims description 9
- 239000013610 patient sample Substances 0.000 claims description 8
- 238000011269 treatment regimen Methods 0.000 claims description 4
- 230000001037 epileptic effect Effects 0.000 claims 1
- 108020004414 DNA Proteins 0.000 description 36
- 238000003752 polymerase chain reaction Methods 0.000 description 26
- 238000006243 chemical reaction Methods 0.000 description 23
- 108091093088 Amplicon Proteins 0.000 description 22
- 238000003556 assay Methods 0.000 description 21
- 238000012360 testing method Methods 0.000 description 21
- 206010010904 Convulsion Diseases 0.000 description 16
- 108700024394 Exon Proteins 0.000 description 13
- 102000004169 proteins and genes Human genes 0.000 description 13
- 239000000499 gel Substances 0.000 description 11
- 238000001712 DNA sequencing Methods 0.000 description 8
- 238000009396 hybridization Methods 0.000 description 8
- 230000001351 cycling effect Effects 0.000 description 7
- 108020004999 messenger RNA Proteins 0.000 description 7
- 108091032973 (ribonucleotides)n+m Proteins 0.000 description 6
- 230000015572 biosynthetic process Effects 0.000 description 6
- 238000002405 diagnostic procedure Methods 0.000 description 6
- 208000002091 Febrile Seizures Diseases 0.000 description 5
- 238000012408 PCR amplification Methods 0.000 description 5
- 238000001514 detection method Methods 0.000 description 5
- 238000003018 immunoassay Methods 0.000 description 5
- 108020004707 nucleic acids Proteins 0.000 description 5
- 102000039446 nucleic acids Human genes 0.000 description 5
- 150000007523 nucleic acids Chemical class 0.000 description 5
- 239000002773 nucleotide Substances 0.000 description 5
- 125000003729 nucleotide group Chemical group 0.000 description 5
- 102000004190 Enzymes Human genes 0.000 description 4
- 108090000790 Enzymes Proteins 0.000 description 4
- TWRXJAOTZQYOKJ-UHFFFAOYSA-L Magnesium chloride Chemical compound [Mg+2].[Cl-].[Cl-] TWRXJAOTZQYOKJ-UHFFFAOYSA-L 0.000 description 4
- 208000036572 Myoclonic epilepsy Diseases 0.000 description 4
- 210000004369 blood Anatomy 0.000 description 4
- 239000008280 blood Substances 0.000 description 4
- 210000004027 cell Anatomy 0.000 description 4
- 230000008859 change Effects 0.000 description 4
- 238000012217 deletion Methods 0.000 description 4
- 230000037430 deletion Effects 0.000 description 4
- 201000009028 early myoclonic encephalopathy Diseases 0.000 description 4
- 238000004128 high performance liquid chromatography Methods 0.000 description 4
- 230000013011 mating Effects 0.000 description 4
- 208000011580 syndromic disease Diseases 0.000 description 4
- IAZDPXIOMUYVGZ-UHFFFAOYSA-N Dimethylsulphoxide Chemical compound CS(C)=O IAZDPXIOMUYVGZ-UHFFFAOYSA-N 0.000 description 3
- 208000002877 Epileptic Syndromes Diseases 0.000 description 3
- PEDCQBHIVMGVHV-UHFFFAOYSA-N Glycerine Chemical compound OCC(O)CO PEDCQBHIVMGVHV-UHFFFAOYSA-N 0.000 description 3
- 206010037660 Pyrexia Diseases 0.000 description 3
- 108010006785 Taq Polymerase Proteins 0.000 description 3
- 239000001961 anticonvulsive agent Substances 0.000 description 3
- 210000004556 brain Anatomy 0.000 description 3
- 230000002068 genetic effect Effects 0.000 description 3
- 238000003780 insertion Methods 0.000 description 3
- 230000037431 insertion Effects 0.000 description 3
- 230000001537 neural effect Effects 0.000 description 3
- 238000006467 substitution reaction Methods 0.000 description 3
- 102000040650 (ribonucleotides)n+m Human genes 0.000 description 2
- 108700028369 Alleles Proteins 0.000 description 2
- 208000014644 Brain disease Diseases 0.000 description 2
- 108091026890 Coding region Proteins 0.000 description 2
- KCXVZYZYPLLWCC-UHFFFAOYSA-N EDTA Chemical compound OC(=O)CN(CC(O)=O)CCN(CC(O)=O)CC(O)=O KCXVZYZYPLLWCC-UHFFFAOYSA-N 0.000 description 2
- ZHNUHDYFZUAESO-UHFFFAOYSA-N Formamide Chemical compound NC=O ZHNUHDYFZUAESO-UHFFFAOYSA-N 0.000 description 2
- UGJMXCAKCUNAIE-UHFFFAOYSA-N Gabapentin Chemical compound OC(=O)CC1(CN)CCCCC1 UGJMXCAKCUNAIE-UHFFFAOYSA-N 0.000 description 2
- 208000003078 Generalized Epilepsy Diseases 0.000 description 2
- 208000034308 Grand mal convulsion Diseases 0.000 description 2
- DGAQECJNVWCQMB-PUAWFVPOSA-M Ilexoside XXIX Chemical compound C[C@@H]1CC[C@@]2(CC[C@@]3(C(=CC[C@H]4[C@]3(CC[C@@H]5[C@@]4(CC[C@@H](C5(C)C)OS(=O)(=O)[O-])C)C)[C@@H]2[C@]1(C)O)C)C(=O)O[C@H]6[C@@H]([C@H]([C@@H]([C@H](O6)CO)O)O)O.[Na+] DGAQECJNVWCQMB-PUAWFVPOSA-M 0.000 description 2
- 108020004711 Nucleic Acid Probes Proteins 0.000 description 2
- 108091028043 Nucleic acid sequence Proteins 0.000 description 2
- 108020002230 Pancreatic Ribonuclease Proteins 0.000 description 2
- 102000005891 Pancreatic ribonuclease Human genes 0.000 description 2
- 102000006382 Ribonucleases Human genes 0.000 description 2
- 108010083644 Ribonucleases Proteins 0.000 description 2
- 208000003554 absence epilepsy Diseases 0.000 description 2
- 230000009286 beneficial effect Effects 0.000 description 2
- 238000003776 cleavage reaction Methods 0.000 description 2
- 239000002299 complementary DNA Substances 0.000 description 2
- 238000003935 denaturing gradient gel electrophoresis Methods 0.000 description 2
- 238000001962 electrophoresis Methods 0.000 description 2
- 238000007823 electrophoretic assay Methods 0.000 description 2
- 230000009395 genetic defect Effects 0.000 description 2
- 229910001629 magnesium chloride Inorganic materials 0.000 description 2
- 238000013508 migration Methods 0.000 description 2
- 230000005012 migration Effects 0.000 description 2
- 230000002151 myoclonic effect Effects 0.000 description 2
- 239000002853 nucleic acid probe Substances 0.000 description 2
- 229920002401 polyacrylamide Polymers 0.000 description 2
- 102000054765 polymorphisms of proteins Human genes 0.000 description 2
- 238000002360 preparation method Methods 0.000 description 2
- 238000003127 radioimmunoassay Methods 0.000 description 2
- 238000011160 research Methods 0.000 description 2
- 108091008146 restriction endonucleases Proteins 0.000 description 2
- 230000007017 scission Effects 0.000 description 2
- 230000035945 sensitivity Effects 0.000 description 2
- 229910052708 sodium Inorganic materials 0.000 description 2
- 239000011734 sodium Substances 0.000 description 2
- 238000001228 spectrum Methods 0.000 description 2
- 238000010998 test method Methods 0.000 description 2
- 238000002255 vaccination Methods 0.000 description 2
- QKNYBSVHEMOAJP-UHFFFAOYSA-N 2-amino-2-(hydroxymethyl)propane-1,3-diol;hydron;chloride Chemical compound Cl.OCC(N)(CO)CO QKNYBSVHEMOAJP-UHFFFAOYSA-N 0.000 description 1
- YUDPTGPSBJVHCN-DZQJYWQESA-N 4-methylumbelliferyl beta-D-galactoside Chemical compound C1=CC=2C(C)=CC(=O)OC=2C=C1O[C@@H]1O[C@H](CO)[C@H](O)[C@H](O)[C@H]1O YUDPTGPSBJVHCN-DZQJYWQESA-N 0.000 description 1
- HRPVXLWXLXDGHG-UHFFFAOYSA-N Acrylamide Chemical compound NC(=O)C=C HRPVXLWXLXDGHG-UHFFFAOYSA-N 0.000 description 1
- 206010003628 Atonic seizures Diseases 0.000 description 1
- 108091006146 Channels Proteins 0.000 description 1
- 201000001913 Childhood absence epilepsy Diseases 0.000 description 1
- 108020004705 Codon Proteins 0.000 description 1
- 108700003861 Dominant Genes Proteins 0.000 description 1
- 208000032274 Encephalopathy Diseases 0.000 description 1
- 108010042407 Endonucleases Proteins 0.000 description 1
- 102000004533 Endonucleases Human genes 0.000 description 1
- 208000024658 Epilepsy syndrome Diseases 0.000 description 1
- 241001203952 Feia Species 0.000 description 1
- PDLGMYVCPJOYAR-DKIMLUQUSA-N Glu-Leu-Phe-Ala Chemical compound OC(=O)CC[C@H](N)C(=O)N[C@@H](CC(C)C)C(=O)N[C@H](C(=O)N[C@@H](C)C(O)=O)CC1=CC=CC=C1 PDLGMYVCPJOYAR-DKIMLUQUSA-N 0.000 description 1
- 101000684813 Homo sapiens Sodium channel subunit beta-1 Proteins 0.000 description 1
- 108091092195 Intron Proteins 0.000 description 1
- 206010071082 Juvenile myoclonic epilepsy Diseases 0.000 description 1
- 208000024556 Mendelian disease Diseases 0.000 description 1
- 208000002033 Myoclonus Diseases 0.000 description 1
- 101710163270 Nuclease Proteins 0.000 description 1
- 108091034117 Oligonucleotide Proteins 0.000 description 1
- 206010034057 Partial complex seizures Diseases 0.000 description 1
- 206010061334 Partial seizures Diseases 0.000 description 1
- 108010052164 Sodium Channels Proteins 0.000 description 1
- 102100023732 Sodium channel subunit beta-1 Human genes 0.000 description 1
- 238000002105 Southern blotting Methods 0.000 description 1
- 208000003443 Unconsciousness Diseases 0.000 description 1
- 108091023045 Untranslated Region Proteins 0.000 description 1
- JLCPHMBAVCMARE-UHFFFAOYSA-N [3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-hydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methyl [5-(6-aminopurin-9-yl)-2-(hydroxymethyl)oxolan-3-yl] hydrogen phosphate Polymers Cc1cn(C2CC(OP(O)(=O)OCC3OC(CC3OP(O)(=O)OCC3OC(CC3O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c3nc(N)[nH]c4=O)C(COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3CO)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cc(C)c(=O)[nH]c3=O)n3cc(C)c(=O)[nH]c3=O)n3ccc(N)nc3=O)n3cc(C)c(=O)[nH]c3=O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)O2)c(=O)[nH]c1=O JLCPHMBAVCMARE-UHFFFAOYSA-N 0.000 description 1
- 208000028311 absence seizure Diseases 0.000 description 1
- 230000004913 activation Effects 0.000 description 1
- 125000003275 alpha amino acid group Chemical group 0.000 description 1
- 125000000539 amino acid group Chemical group 0.000 description 1
- 210000004381 amniotic fluid Anatomy 0.000 description 1
- 238000011888 autopsy Methods 0.000 description 1
- 230000008901 benefit Effects 0.000 description 1
- 238000001574 biopsy Methods 0.000 description 1
- UDSAIICHUKSCKT-UHFFFAOYSA-N bromophenol blue Chemical compound C1=C(Br)C(O)=C(Br)C=C1C1(C=2C=C(Br)C(O)=C(Br)C=2)C2=CC=CC=C2S(=O)(=O)O1 UDSAIICHUKSCKT-UHFFFAOYSA-N 0.000 description 1
- FFGPTBGBLSHEPO-UHFFFAOYSA-N carbamazepine Chemical compound C1=CC2=CC=CC=C2N(C(=O)N)C2=CC=CC=C21 FFGPTBGBLSHEPO-UHFFFAOYSA-N 0.000 description 1
- 229960000623 carbamazepine Drugs 0.000 description 1
- 210000003169 central nervous system Anatomy 0.000 description 1
- 210000003467 cheek Anatomy 0.000 description 1
- 239000003593 chromogenic compound Substances 0.000 description 1
- 210000000349 chromosome Anatomy 0.000 description 1
- 108010041758 cleavase Proteins 0.000 description 1
- 230000002566 clonic effect Effects 0.000 description 1
- 230000000295 complement effect Effects 0.000 description 1
- 230000001054 cortical effect Effects 0.000 description 1
- 238000004132 cross linking Methods 0.000 description 1
- 230000002950 deficient Effects 0.000 description 1
- 239000005546 dideoxynucleotide Substances 0.000 description 1
- 238000010790 dilution Methods 0.000 description 1
- 239000012895 dilution Substances 0.000 description 1
- 201000010099 disease Diseases 0.000 description 1
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 1
- 238000013399 early diagnosis Methods 0.000 description 1
- 238000001952 enzyme assay Methods 0.000 description 1
- 208000028329 epileptic seizure Diseases 0.000 description 1
- 230000001667 episodic effect Effects 0.000 description 1
- 238000012869 ethanol precipitation Methods 0.000 description 1
- 238000011156 evaluation Methods 0.000 description 1
- 206010016284 febrile convulsion Diseases 0.000 description 1
- 230000001605 fetal effect Effects 0.000 description 1
- 238000013100 final test Methods 0.000 description 1
- 238000011990 functional testing Methods 0.000 description 1
- 229960002870 gabapentin Drugs 0.000 description 1
- 238000001502 gel electrophoresis Methods 0.000 description 1
- 201000008186 generalized epilepsy with febrile seizures plus Diseases 0.000 description 1
- 239000011544 gradient gel Substances 0.000 description 1
- 239000008187 granular material Substances 0.000 description 1
- 125000005842 heteroatom Chemical group 0.000 description 1
- 201000001993 idiopathic generalized epilepsy Diseases 0.000 description 1
- 208000034287 idiopathic generalized susceptibility to 7 epilepsy Diseases 0.000 description 1
- 230000008105 immune reaction Effects 0.000 description 1
- 238000000338 in vitro Methods 0.000 description 1
- 238000011835 investigation Methods 0.000 description 1
- 229960001848 lamotrigine Drugs 0.000 description 1
- PYZRQGJRPPTADH-UHFFFAOYSA-N lamotrigine Chemical compound NC1=NC(N)=NN=C1C1=CC=CC(Cl)=C1Cl PYZRQGJRPPTADH-UHFFFAOYSA-N 0.000 description 1
- 238000011068 loading method Methods 0.000 description 1
- 239000000463 material Substances 0.000 description 1
- 239000011159 matrix material Substances 0.000 description 1
- 230000007246 mechanism Effects 0.000 description 1
- 238000002844 melting Methods 0.000 description 1
- 230000008018 melting Effects 0.000 description 1
- 238000002156 mixing Methods 0.000 description 1
- 239000000203 mixture Substances 0.000 description 1
- 238000012544 monitoring process Methods 0.000 description 1
- 210000003205 muscle Anatomy 0.000 description 1
- 230000004118 muscle contraction Effects 0.000 description 1
- ZIUHHBKFKCYYJD-UHFFFAOYSA-N n,n'-methylenebisacrylamide Chemical compound C=CC(=O)NCNC(=O)C=C ZIUHHBKFKCYYJD-UHFFFAOYSA-N 0.000 description 1
- 230000007472 neurodevelopment Effects 0.000 description 1
- 230000000926 neurological effect Effects 0.000 description 1
- 210000002569 neuron Anatomy 0.000 description 1
- 230000008587 neuronal excitability Effects 0.000 description 1
- 238000005457 optimization Methods 0.000 description 1
- 230000002085 persistent effect Effects 0.000 description 1
- 230000003169 placental effect Effects 0.000 description 1
- 108091033319 polynucleotide Proteins 0.000 description 1
- 102000040430 polynucleotide Human genes 0.000 description 1
- 239000002157 polynucleotide Substances 0.000 description 1
- 239000011148 porous material Substances 0.000 description 1
- 238000003793 prenatal diagnosis Methods 0.000 description 1
- 238000012545 processing Methods 0.000 description 1
- 230000000750 progressive effect Effects 0.000 description 1
- 230000002035 prolonged effect Effects 0.000 description 1
- 230000006337 proteolytic cleavage Effects 0.000 description 1
- 238000003906 pulsed field gel electrophoresis Methods 0.000 description 1
- 238000000746 purification Methods 0.000 description 1
- 230000008707 rearrangement Effects 0.000 description 1
- 230000002441 reversible effect Effects 0.000 description 1
- 238000012216 screening Methods 0.000 description 1
- 238000002805 secondary assay Methods 0.000 description 1
- 238000000926 separation method Methods 0.000 description 1
- 210000002460 smooth muscle Anatomy 0.000 description 1
- AEQFSUDEHCCHBT-UHFFFAOYSA-M sodium valproate Chemical compound [Na+].CCCC(C([O-])=O)CCC AEQFSUDEHCCHBT-UHFFFAOYSA-M 0.000 description 1
- 238000001179 sorption measurement Methods 0.000 description 1
- 239000008223 sterile water Substances 0.000 description 1
- 230000002739 subcortical effect Effects 0.000 description 1
- 239000000758 substrate Substances 0.000 description 1
- 208000024891 symptom Diseases 0.000 description 1
- 238000002560 therapeutic procedure Methods 0.000 description 1
- 238000005382 thermal cycling Methods 0.000 description 1
- 229940098465 tincture Drugs 0.000 description 1
- 210000001519 tissue Anatomy 0.000 description 1
- 230000001256 tonic effect Effects 0.000 description 1
- 238000012546 transfer Methods 0.000 description 1
- 238000013519 translation Methods 0.000 description 1
- 229940102566 valproate Drugs 0.000 description 1
- PJDFLNIOAUIZSL-UHFFFAOYSA-N vigabatrin Chemical compound C=CC(N)CCC(O)=O PJDFLNIOAUIZSL-UHFFFAOYSA-N 0.000 description 1
- 229960005318 vigabatrin Drugs 0.000 description 1
- XLYOFNOQVPJJNP-UHFFFAOYSA-N water Chemical compound O XLYOFNOQVPJJNP-UHFFFAOYSA-N 0.000 description 1
- DGVVWUTYPXICAM-UHFFFAOYSA-N β‐Mercaptoethanol Chemical compound OCCS DGVVWUTYPXICAM-UHFFFAOYSA-N 0.000 description 1
Classifications
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P25/00—Drugs for disorders of the nervous system
- A61P25/08—Antiepileptics; Anticonvulsants
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
Landscapes
- Health & Medical Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Genetics & Genomics (AREA)
- Zoology (AREA)
- Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Biochemistry (AREA)
- Biophysics (AREA)
- Immunology (AREA)
- Molecular Biology (AREA)
- Wood Science & Technology (AREA)
- Analytical Chemistry (AREA)
- Medicinal Chemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Cell Biology (AREA)
- Biotechnology (AREA)
- Gastroenterology & Hepatology (AREA)
- Pathology (AREA)
- Toxicology (AREA)
- General Engineering & Computer Science (AREA)
- Physics & Mathematics (AREA)
- Microbiology (AREA)
- Neurology (AREA)
- Animal Behavior & Ethology (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Neurosurgery (AREA)
- Veterinary Medicine (AREA)
- Biomedical Technology (AREA)
- Pharmacology & Pharmacy (AREA)
- Pain & Pain Management (AREA)
- General Chemical & Material Sciences (AREA)
- Public Health (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Preparation Of Compounds By Using Micro-Organisms (AREA)
- Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
- Investigating Or Analysing Biological Materials (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| AU2003901425A AU2003901425A0 (en) | 2003-03-27 | 2003-03-27 | A diagnostic method for epilepsy |
| AU2003901425 | 2003-03-27 | ||
| PCT/AU2004/000295 WO2004085674A1 (en) | 2003-03-27 | 2004-03-10 | Methods for the diagnosis and treatment of epilepsy |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| ES2478624T3 true ES2478624T3 (es) | 2014-07-22 |
Family
ID=31500468
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| ES04718885.9T Expired - Lifetime ES2478624T3 (es) | 2003-03-27 | 2004-03-10 | Métodos para el diagnóstico y el tratamiento de la epilepsia |
Country Status (9)
| Country | Link |
|---|---|
| US (2) | US7723027B2 (https=) |
| EP (1) | EP1606418B1 (https=) |
| JP (1) | JP2006524490A (https=) |
| AU (1) | AU2003901425A0 (https=) |
| CA (1) | CA2520271C (https=) |
| DK (1) | DK1606418T3 (https=) |
| ES (1) | ES2478624T3 (https=) |
| NZ (1) | NZ542202A (https=) |
| WO (1) | WO2004085674A1 (https=) |
Families Citing this family (12)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| AUPR220300A0 (en) | 2000-12-20 | 2001-01-25 | Bionomics Limited | New epilepsy gene |
| US7709225B2 (en) * | 2001-07-18 | 2010-05-04 | Bionomics Limited | Nucleic acids encoding mutations in sodium channels related to epilepsy |
| AU2003904154A0 (en) | 2003-08-07 | 2003-08-21 | Bionomics Limited | Mutations in ion channels |
| JP2005501536A (ja) | 2001-07-18 | 2005-01-20 | バイオノミックス リミテッド | イオンチャネルにおける変異 |
| AU2003901425A0 (en) | 2003-03-27 | 2003-04-10 | Bionomics Limited | A diagnostic method for epilepsy |
| EP1904630A4 (en) * | 2005-06-16 | 2009-10-21 | Bionomics Ltd | METHODS OF TREATING AND DIAGNOSING EPILEPSY BY DETECTING MUTATIONS OF THE SCN1A GENE |
| US20090304747A1 (en) * | 2006-05-16 | 2009-12-10 | Mayo Foundation For Medical Education And Research | Use of dmso and botulinum toxin therapy for urinary incontinence and related disorders |
| US20130036482A1 (en) | 2010-01-29 | 2013-02-07 | National University Corporation Okayama University | Method for assessment of potential for development of dravet syndrome and use thereof |
| CN109112126B (zh) | 2010-06-23 | 2024-06-14 | 库尔纳公司 | 通过抑制电压门控钠通道α亚基(SCNA)的天然反义转录物而治疗SCNA相关疾病 |
| JP2018531975A (ja) * | 2015-10-30 | 2018-11-01 | ピーティーシー セラピューティクス，インコーポレーテッド | てんかんの治療方法 |
| WO2019224864A1 (ja) * | 2018-05-21 | 2019-11-28 | 国立研究開発法人理化学研究所 | Ｓｃｎ１ａ遺伝子の発現増強法とそれによるドラベ症候群の治療法 |
| CN113197585B (zh) * | 2021-04-01 | 2022-02-18 | 燕山大学 | 一种神经肌肉信息交互模型构建及参数辨识优化方法 |
Family Cites Families (22)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US4016043A (en) | 1975-09-04 | 1977-04-05 | Akzona Incorporated | Enzymatic immunological method for the determination of antigens and antibodies |
| US4172124A (en) | 1978-04-28 | 1979-10-23 | The Wistar Institute | Method of producing tumor antibodies |
| US4474893A (en) | 1981-07-01 | 1984-10-02 | The University of Texas System Cancer Center | Recombinant monoclonal antibodies |
| NZ207394A (en) | 1983-03-08 | 1987-03-06 | Commw Serum Lab Commission | Detecting or determining sequence of amino acids |
| US4971903A (en) | 1988-03-25 | 1990-11-20 | Edward Hyman | Pyrophosphate-based method and apparatus for sequencing nucleic acids |
| US5331573A (en) | 1990-12-14 | 1994-07-19 | Balaji Vitukudi N | Method of design of compounds that mimic conformational features of selected peptides |
| NO175199C (no) | 1991-12-05 | 1994-09-14 | Kvaerner Fjellstrand As | Flerskrogfartöy |
| US5646040A (en) | 1995-06-30 | 1997-07-08 | Millennium Pharmaceutical, Inc. | Mammalian tub gene |
| US6331614B1 (en) * | 1998-12-23 | 2001-12-18 | Myriad Genetics, Inc. | Human CDC14A gene |
| DE1252330T1 (de) * | 1999-11-26 | 2003-11-27 | Mcgill University, Montreal | Loci der idiopathischen epilepsie, mutationen derselben und verfahren zu deren verwendung zur feststellung, prognose und behandlung von epilepsie |
| US6331573B1 (en) * | 2000-02-29 | 2001-12-18 | Chevron U.S.A. Inc. | Increased liquid sensitivity during fischer-tropsch synthesis by olefin incorporation |
| AUPQ749100A0 (en) | 2000-05-12 | 2000-06-08 | Bionomics Limited | New epilespy gene |
| ATE437948T1 (de) | 2000-06-20 | 2009-08-15 | Bionomics Ltd | Mutation, welche mit epilepsie assoziiert ist |
| AUPQ882600A0 (en) | 2000-07-18 | 2000-08-10 | Bionomics Limited | Mutations in ion channels |
| AUPR220300A0 (en) * | 2000-12-20 | 2001-01-25 | Bionomics Limited | New epilepsy gene |
| US7282336B2 (en) | 2001-07-18 | 2007-10-16 | Bionomics Limited | Method of diagnosing epilepsy |
| JP2005501536A (ja) * | 2001-07-18 | 2005-01-20 | バイオノミックス リミテッド | イオンチャネルにおける変異 |
| AU2003904154A0 (en) | 2003-08-07 | 2003-08-21 | Bionomics Limited | Mutations in ion channels |
| US7709225B2 (en) | 2001-07-18 | 2010-05-04 | Bionomics Limited | Nucleic acids encoding mutations in sodium channels related to epilepsy |
| US20030157525A1 (en) | 2001-11-26 | 2003-08-21 | Mintier Gabriel A. | Novel human G-protein coupled receptor, HGPRBMY31, and variants and methods of use thereof |
| AU2003901425A0 (en) | 2003-03-27 | 2003-04-10 | Bionomics Limited | A diagnostic method for epilepsy |
| EP1904630A4 (en) | 2005-06-16 | 2009-10-21 | Bionomics Ltd | METHODS OF TREATING AND DIAGNOSING EPILEPSY BY DETECTING MUTATIONS OF THE SCN1A GENE |
-
2003
- 2003-03-27 AU AU2003901425A patent/AU2003901425A0/en not_active Abandoned
-
2004
- 2004-03-10 CA CA2520271A patent/CA2520271C/en not_active Expired - Lifetime
- 2004-03-10 ES ES04718885.9T patent/ES2478624T3/es not_active Expired - Lifetime
- 2004-03-10 DK DK04718885.9T patent/DK1606418T3/da active
- 2004-03-10 NZ NZ542202A patent/NZ542202A/en not_active IP Right Cessation
- 2004-03-10 WO PCT/AU2004/000295 patent/WO2004085674A1/en not_active Ceased
- 2004-03-10 EP EP04718885.9A patent/EP1606418B1/en not_active Expired - Lifetime
- 2004-03-10 JP JP2006503959A patent/JP2006524490A/ja active Pending
- 2004-03-23 US US10/806,899 patent/US7723027B2/en not_active Expired - Lifetime
-
2010
- 2010-04-26 US US12/767,523 patent/US8288096B2/en not_active Expired - Fee Related
Also Published As
| Publication number | Publication date |
|---|---|
| US20100203548A1 (en) | 2010-08-12 |
| CA2520271C (en) | 2014-09-23 |
| JP2006524490A (ja) | 2006-11-02 |
| AU2003901425A0 (en) | 2003-04-10 |
| EP1606418A4 (en) | 2006-11-22 |
| US8288096B2 (en) | 2012-10-16 |
| DK1606418T3 (da) | 2014-07-14 |
| EP1606418B1 (en) | 2014-05-07 |
| US20040229257A1 (en) | 2004-11-18 |
| EP1606418A1 (en) | 2005-12-21 |
| NZ542202A (en) | 2009-07-31 |
| CA2520271A1 (en) | 2004-10-07 |
| WO2004085674A1 (en) | 2004-10-07 |
| US7723027B2 (en) | 2010-05-25 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| US20100088778A1 (en) | Methods of Treatment, and Diagnosis of Epilepsy by Detecting Mutations in the SCN1A Gene | |
| De Castro et al. | Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients | |
| US8288096B2 (en) | Diagnostic method for epilepsy | |
| KR20100016525A (ko) | 녹내장 진행 리스크의 판정 방법 | |
| Pineda-Trujillo et al. | A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree | |
| US20090291451A1 (en) | Methods and primers for diagnosing idiopathic congenital central hypoventilation syndrome | |
| US8916743B2 (en) | Method for assessment of potential for development of dravet syndrome and use thereof | |
| EP1852505A1 (en) | Mutations in ion channels | |
| KR102018369B1 (ko) | 근위축성측삭경화증에 대한 진단 마커로서의 돌연변이 유전자 및 이를 이용한 진단방법 | |
| DK2247752T3 (en) | FORECAST AND DIAGNOSIS OF CANINE degeneration of myelopathy | |
| JP2009131247A (ja) | 脳炎または脳症の罹患リスク判定データの取得方法およびその利用、並びに熱性けいれんのてんかんへの移行リスク判定データの取得方法およびその利用 | |
| US20070117095A1 (en) | Diagnostic method for neonatal or infantile epilepsy syndromes | |
| Combi et al. | Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy | |
| ES2350851T3 (es) | Gen humano de susceptibilidad al autismo que codifica una proteína transmembrana y sus usos. | |
| AU2004200978B2 (en) | A diagnostic method for epilepsy | |
| AU2006257716B2 (en) | Methods of treatment, and diagnosis of epilepsy by detecting mutations in the SCN1A gene | |
| JP7088519B2 (ja) | 側弯症の検査方法 | |
| AU2004279897A1 (en) | A diagnostic method for neonatal or infantile epilepsy syndromes | |
| JP2002171990A (ja) | ヒトコレシストキニン遺伝子上流領域の多型、その同定方法及び試薬並びにこれに基づく不安性障害の診断方法 | |
| JP2001149082A (ja) | Ｃｄ３６変異遺伝子並びに脂質代謝異常により引き起こされる疾患の判定法および診断キット | |
| Angalena et al. | Single gene disorders | |
| Berkovic et al. | Deletions or duplications in | |
| WO2001082776A2 (en) | Methods and compositions for the diagnosis of schizophrenia | |
| WO2006136791A1 (en) | Polymorphisms and haplotypes in p2x7 gene and their use in determining susceptibility for atherosclerosis-mediated diseases |