Epilepsy
Epilepsy is one of the most common diseases in neurology and seizures are caused by abnormal electrical discharge from different parts of the cerebral cortex. The symptoms depend on the localization of abnormal outbreaks in the brain, where the following can occur: muscle spasms, hearing disturbances, disturbances of smell, vision, sensory disturbances, as well as a disturbance of consciousness.
Epileptic seizures
Among the generalized seizures, the most common are grand mal seizures with complete loss of consciousness, muscle spasms, during which the person often turns blue, bites the tongue and urinates and the so-called small seizures that most often occur in childhood, during which there is a short-term interruption of activity with staring. Partial seizures can have simple (elementary) and complex (complex) symptoms, depending on whether there is a disturbance (narrowing) of the state of consciousness.
Causes of epilepsy
The causes of epilepsy can be: congenital developmental disorders, infections, tumors, blood vessel diseases, degenerative diseases, metabolic disorders, trauma or the cause remains unknown. In adulthood, the most common cause is: strokes, head trauma, excessive consumption of alcohol and/or drugs, tumors and infections and metabolic causes. Psychogenic seizures are very common and occur as a result of emotional imbalance and can often alternate with epileptic seizures in patients with epilepsy.
The most common cause of loss of consciousness is the so-called vasovagal syncope or "ordinary fainting" which usually occurs when standing up suddenly, with elevated body temperature, when staying in an area with an unpleasant smell, when drawing blood, etc. Therefore, it is important during the examination to determine the circumstances under which the attack occurred and if possible get an accurate description and duration of symptoms, information about possible head trauma, previous illnesses during life and information about family history and make a detailed neurological status.
Diagnostics
EEG (electroencephalography) is the most important diagnostic test for epilepsy. In addition, neuroradiological processing (CT/MR of the brain according to the protocol for epilepsy) and laboratory blood tests are recommended.
My Genome genetic test for epilepsy
With the My Genome test, you can find out information about over 20,000 of your genes, which enables timely prevention and diagnosis of the risk of developing the most common diseases today. Also, My Genome test can help physicians to diagnose rare, hereditary disorders and diseases whose symptoms can appear in early infancy and during adulthood. Besides that, this test enables the testing of over three billion base pairs, which can help physicians to understand the molecular basis of all biological processes, disorders, and diseases.
Comprehensive epilepsy panel (591 genes)
The Comprehensive Epilepsy Panel analyzes 591 genes that are associated with both syndromic and nonsyndromic causes of epilepsy, a common neurological disease characterized by recurrent, unprovoked seizures.
Genes included in the Comprehensive Epilepsy Panel:
MT-TQ, NALCN, COX15, ALG3, GFM1, PCDH19, CPA6, MAP2K1, OFD1, PSAP, MT-RNR1, KANSL1, MICAL1, DNM1L, FOXG1, ACY1, CLCN2, TMEM70, GRIA4, BRD2, ADRA2B, DNAJC5, TSEN54, SCN2A, CLN3, SETD1B, PLAA, IER3IP1, PRRT2, AMACR, COG8, RAB39B, FARS2, AGA, PNKD, SNAP25, ARFGEF2, ALDH4A1, FAM126A, MT-TL1, SLC25A1, GCSH, KCNH5, NTRK2, CACNA1B, DOCK7, PITRM1, RORA, TUBA1A, SSR4, MPDU1, NDST1, MT-ND5, PACS1, PCLO, MT-TH, SLC6A8, POLR3A, ST3GAL3, MGAT2, RBFOX3, CTSD, BRAT1, MTHFR, GNE, EPM2A, NSDHL, ZEB2, DENND5A, POLR3B, PPP2R1A, GUF1, NUBPL, PURA, SLC2A1, MAPK10, MT-ND1, GATM, KCNJ10, PDHA1, GAL, ARHGEF9, SPATA5, FOLR1, SLC25A42, ATAD1, DEAF1, KIF5A, MT-TM, NR2F1, GABRB1, FA2H, GAMT, PPP2CA, ATP1A1, CPT2, KCNH2, SLC35A1, SLC1A3, MT-ATP6, MEF2C, NTNG1, PEX19, PLA2G6, TRIT1, AUH, PIGW, SLC12A5, KCTD3, PLPBP, GLS, PRICKLE1, ACTL6B, RNASEH2C, HSPD1, PEX12, RNASET2, UNC80, PIGP, QDPR, KCTD7, PEX14, CCDC88C, STRADA, PLP1, KIF2A, TWNK, GNS, SGSH, GOSR2, MLC1, TBCK, GFAP, ALDH5A1, DPM2, SCN9A, ATP6V1A, LRPPRC, MED17, SLC25A22, MT-TE, MT-CO2, SIK1, MT-TD, CHRNA4, DEPDC5, ALDH7A1, NPC1, CTSF, TCF4, NEDD4L, HACE1, NECAP1, MTOR, EFHC1, GPHN, RHOBTB2, GABRA1, MBOAT7, COX6B1, ATP7A, CASR, PTEN, TPK1, TBCE, ALG8, CHD2, CACNA1H, PEX10, EHMT1, PIGQ, GABBR2, ST3GAL5, PACS2, CLN5, BCKDK, RNASEH2B, DNM1, NRXN1, SMC1A, NACC1, MT-TK, PRICKLE2, GLDC, SMARCA2, LMNB2, SLC1A4, SYN1, AMT, PLCB1, KCNH1, PIGA, CTC1, TSFM, KCNT2, CLN6, SLC4A10, RELN, ROGDI, ASAH1, SAMHD1, FUT8, SLC13A5, SCARB2, PIGV, TBX1, ARSA, CNKSR2, SERPINI1, MT-ND6, MT-TG, KCNT1, DDX3X, MT-TW, ARHGEF15, CDKL5, CASK, KDM5C, MARS2, SNX27, PRODH, KCNA1, CLTC, TNK2, CAMK2B, NPRL2, NAGLU, CHRNA7, NPC2, TRIM8, ADGRG1, DARS2, WARS2, MT-TR, NIPBL, TREX1, UBE3A, NKX6-2, SCN4A, MT-TS1, CYFIP2, PHGDH, CACNA1E, FUCA1, WWOX, NDUFS7, TPP1, UBE2A, TRAK1, PC, IRF2BPL, KPNA7, NEXMIF, ADGRV1, PEX3, ARG1, ITPA, OCLN, DCX, FGF12, TUBB2A, AKT3, MT-TV, CNPY3, IDS, DHPS, CSF1R, DYRK1A, PHF6, PHACTR1, WDR26, ATP2A2, RANBP2, NDUFAF3, PGK1, SHANK3, GRIA3, ALG13, BOLA3, ME2, TSC2, CSNK2B, STX1B, FBXO11, CUX2, MCPH1, CNTNAP2, GCH1, ATP1A2, MT-ND2, CLN8, LGI1, KCND2, ATP6AP2, HDAC8, EEF1A2, RUSC2, PPP3CA, ADNP, GPAA1, GRIK2, HEXA, SATB2, MT-TI, GLB1, COX10, GABRD, NDE1, PIGB, AP4B1, HNRNPU, ARX, IQSEC2, IBA57, NHLRC1, EML1, ALG12, SDHAF1, FAR1, DHFR, CACNB4, KCNAB2, MFSD8, YWHAG, EIF3F, MAP2K2, DOLK, PEX1, SLC19A3, ATIC, DIAPH1, PRIMA1, COQ9, EIF2B1, CARS2, NDUFA1, PYCR2, SCN10A, PUM1, TANGO2, GALC, PSAT1, EIF2B2, CACNA2D2, SDHA, GLUD1, ABCA2, LAMC3, EARS2, ALG1, CNTN2, P4HTM, SLC35C1, CYP27A1, LAMA2, HPD, ANKRD11, RORB, MT-TF, VAMP2, HCN1, COQ8A, NBEA, CACNA1G, KCNV2, ZIC2, GRIN2D, ALG6, CC2D2A, DPYD, SCN1B, PIGS, KIF1A, GRN, MOCS2, CHRNB2, HCN4, TSC1, KCNMA1, NEUROD2, SLC35A2, GRIN1, PNPO, NPRL3, CPLX1, PPT1, MT-TP, RAI1, ZNHIT3, FLNA, TK2, CUL4B, PQBP1, GABRB2, SCN3A, HEXB, KDM6A, MED12, NDUFS6, TBC1D24, PEX5, SCN8A, EIF2B5, CACNA1D, MRPL44, CAD, PIGC, KMT2D, RMND1, ADSL, SLC6A5, GCDH, COA7, CTSA, MT-ND4, CACNA1A, PEX6, DMXL2, ASPA, MT-ND3, ECM1, MDH2, NUS1, SLC46A1, ASXL3, MBD5, ASNS, PTPN23, SLC25A15, ARV1, ETHE1, KCNA2, DEGS1, NEU1, CCDC88A, KIF5C, SLC6A1, TBCD, PDSS2, RBFOX1, ABAT, ECHS1, HSD17B10, MT-TT, NSD1, SCO2, OPHN1, SCN1A, PARS2, SLC9A6, DPM1, PCNT, SMC3, PEX26, PAFAH1B1, COQ4, LIAS, SPTAN1, NF1, PMM2, SYNJ1, MOCS1, KCNB1, ADAR, GFM2, DHDDS, PTS, CLCN4, CRH, RAB11A, VPS13A, COG7, PEX7, COL4A2, FOXRED1, TBL1XR1, MT-TA, UBTF, CHRNA2, ALDH3A2, EMX2, SRGAP2, BTD, MIPEP, HEPACAM, RARS2, SZT2, TSEN2, D2HGDH, GNB1, SLC17A5, SUOX, EIF2B4, KCNQ2, KCNC1, KCNK4, SYP, HGSNAT, ATP1A3, SLC1A2, STXBP2, SURF1, PNKP, UBA5, COQ2, DYNC1H1, KMT2E, COL18A1, AP3B2, KCNQ3, NFU1, ZDHHC9, SLC39A8, HIBCH, HTRA1, KRAS, SYNGAP1, GRIN2A, GRIN2B, FRRS1L, HTT, TUBB2B, SMS, WASF1, NDUFA2, MT-CYB, RNF13, SGCE, NDUFS8, HDAC4, RFT1, STXBP1, POLG, HCN2, PIGG, MOGS, SETBP1, TSEN34, PTCH1, FH, MECP2, COG5, GTPBP3, COL4A1, FASN, L2HGDH, TUBB4A, TUBA8, KCNQ5, DLD, NGLY1, CSTB, SERAC1, RAB11B, ATP13A2, GNAO1, PEX16, NDUFAF6, EIF2B3, RNASEH2A, AP4S1, GABRA2, PIGT, HECW2, NOTCH3, GLI2, SLC25A12, YY1, VPS13B, MT-TS2, SHH, DPAGT1, GABRB3, PIGN, SUMF1, GABRG2, NDUFV1, AP2M1, WDR45, ADAM22, ZSWIM6, PSPH, DPYS, MT-TL2, ALG9, PEX13, KCNJ11, PIGO, PEX2, RALA, SIX3.
