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Spasms, Infantile (D013036)
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 (OMIM:616366)

       Child Nodes:



 Sister Nodes: 
..expandConvulsions, Benign Familial Infantile, 2 (C565296)
..expandEpileptic Encephalopathy, Early Infantile, 1 (C567924)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 (OMIM:614558)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 (OMIM:614959)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 (OMIM:615473)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18 (OMIM:615476)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 (OMIM:615744)
..expandEpileptic Encephalopathy, Early Infantile, 2 (C564064)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 (OMIM:615833)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 (OMIM:615859)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 (OMIM:615871)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25 (OMIM:615905)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 (OMIM:616056)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 (OMIM:616139)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 (OMIM:616211)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 (OMIM:616339)
..expandEpileptic Encephalopathy, Early Infantile, 3 (C562695)  LSDB  L: 00103;
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 (OMIM:616341)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 (OMIM:616346)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 (OMIM:616366)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 (OMIM:616409)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 (OMIM:616645)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 (OMIM:616647)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 (OMIM:300884)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 (OMIM:616981)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 (OMIM:617020)
..expandEpileptic Encephalopathy, Early Infantile, 4 (C567404)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 (OMIM:617065)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 (OMIM:617105)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 (OMIM:617106)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 (OMIM:617113)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 (OMIM:617132)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 (OMIM:617153)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 (OMIM:617162)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 (OMIM:617166)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 (OMIM:617276)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49 (OMIM:617281)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 (OMIM:616457)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 (OMIM:617339)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 (OMIM:617350)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 (OMIM:617389)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 (OMIM:617391)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..expandMicrocephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..expandNorrie disease (C537849)
..expandPEHO syndrome (C536317)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4312
Name:EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
Definition:
Alternative IDs:
ParentIDs:MESH:D013036
TreeNumbers:C10.228.140.490.375.760/616366 |C10.228.140.490.493.875/616366
Synonyms:EIEE32
Slim Mappings:Nervous system disease
Reference: MedGen: 616366
MeSH: 616366
OMIM: 616366;
MSeqDR LSDB:  
Genes: BCS1L;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003593Infantile onset
3 HP:0001251Ataxia
4 HP:0200134Epileptic encephalopathy
5 HP:0001249Intellectual disability
6 HP:0001336Myoclonus
NAMDC:  Myoclonus
7 HP:0001250Seizures
NAMDC:  Seizures
8 HP:0001337Tremor
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004974.4(KCNA2):c.1304G>C (p.Cys435Ser)3737KCNA2Uncertain significancers1553181236RCV000653135; NMedGen:C4225350,OMIM:61636611111461011111461011:g.111146101C>G-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.1256G>A (p.Arg419Gln)3737KCNA2Uncertain significancers1296710118RCV000539492; NMedGen:C4225350,OMIM:61636611111461491111461491:g.111146149C>T-
NM_004974.4(KCNA2):c.1242C>G (p.Asn414Lys)3737KCNA2Uncertain significance-1RCV000819981; NMedGen:C4225350,OMIM:61636611111461631111461631:g.111146163G>C-
NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala)3737KCNA2Pathogenic-1RCV000824855; NMedGen:C4225350,OMIM:61636611111461821111461821:g.111146182A>G-
NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe)3737KCNA2Uncertain significancers1553181257RCV000653137; NMedGen:C4225350,OMIM:61636611111461891111461891:g.111146189C>A-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)3737KCNA2Pathogenicrs876657389RCV000170511; RCV000407449; NMedGen:C4225350,OMIM:616366; MedGen:CN51720211111461911111461911:g.111146191G>AOMIM Allelic Variant:176262.0001,UniProtKB (protein):P16389#VAR_073707
NM_004974.4(KCNA2):c.1195G>A (p.Val399Met)3737KCNA2Likely pathogenicrs1064794738RCV000723323; RCV000483386; NMedGen:C4225350,OMIM:616366; MedGen:CN51720211111462101111462101:g.111146210C>T-CN517202 not provided;
NM_004974.4(KCNA2):c.1154T>C (p.Ile385Thr)3737KCNA2Uncertain significancers1197586006RCV000653133; NMedGen:C4225350,OMIM:61636611111462511111462511:g.111146251A>G-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.1145C>T (p.Pro382Leu)3737KCNA2Uncertain significancers777008812RCV000702425; NMedGen:C4225350,OMIM:61636611111462601111462601:g.111146260G>A-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.1127G>C (p.Gly376Ala)3737KCNA2Uncertain significancers1557732017RCV000699887; NMedGen:C4225350,OMIM:61636611111462781111462781:g.111146278C>G-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala)3737KCNA2Pathogenicrs1553181280RCV000677419; NMedGen:C4225350,OMIM:61636611111462851111462851:g.111146285T>C-
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile)3737KCNA2Likely pathogenicrs1553181282RCV000986393; RCV000520764; NMedGen:C4225350,OMIM:616366; MedGen:CN51720211111462871111462871:g.111146287G>A-CN517202 not provided;
NM_004974.4(KCNA2):c.1107C>T (p.Val369=)3737KCNA2Likely benignrs141466713RCV000555594; NMedGen:C4225350,OMIM:61636611111462981111462981:g.111146298G>A-
NM_004974.4(KCNA2):c.1031dup (p.Ser344fs)3737KCNA2Uncertain significancers1553181298RCV000653134; NMedGen:C4225350,OMIM:61636611111463731111463741:g.111146373_111146374insC-
NM_004974.4(KCNA2):c.1028C>T (p.Ser343Phe)3737KCNA2Uncertain significancers1557732150RCV000701882; NMedGen:C4225350,OMIM:61636611111463771111463771:g.111146377G>A-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.1013G>A (p.Gly338Glu)3737KCNA2Likely pathogenicrs1553181301RCV000653131; NMedGen:C4225350,OMIM:61636611111463921111463921:g.111146392C>T-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.997T>C (p.Phe333Leu)3737KCNA2Uncertain significancers1557732183RCV000697415; NMedGen:C4225350,OMIM:61636611111464081111464081:g.111146408A>G-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.961C>T (p.Leu321Phe)3737KCNA2Uncertain significancers1557732226RCV000707653; NMedGen:C4225350,OMIM:61636611111464441111464441:g.111146444G>A-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.959C>T (p.Thr320Ile)3737KCNA2Likely pathogenicrs1553181323RCV000585826; NMedGen:C4225350,OMIM:61636611111464461111464461:g.111146446G>A-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.895G>C (p.Val299Leu)3737KCNA2Uncertain significancers1553181334RCV000547025; NMedGen:C4225350,OMIM:61636611111465101111465101:g.111146510C>G-
NM_004974.4(KCNA2):c.894G>T (p.Leu298Phe)3737KCNA2Pathogenicrs876657390RCV000170513; NMedGen:C4225350,OMIM:61636611111465111111465111:g.111146511C>AOMIM Allelic Variant:176262.0003,UniProtKB (protein):P16389#VAR_073706C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)3737KCNA2Pathogenicrs786205232RCV000170514; RCV000622743; RCV000264400; NMedGen:C4225350,OMIM:616366; MeSH:D030342,MedGen:C0950123; MedGen:CN51720211111465151111465151:g.111146515C>TOMIM Allelic Variant:176262.0004,UniProtKB (protein):P16389#VAR_073705C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)3737KCNA2Conflicting interpretations of pathogenicityrs886041761RCV000706154; RCV000622695; RCV000339475; NMedGen:C4225350,OMIM:616366; MeSH:D030342,MedGen:C0950123; MedGen:CN51720211111465241111465241:g.111146524C>T-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.851G>A (p.Gly284Asp)3737KCNA2Uncertain significancers1246925002RCV000701240; NMedGen:C4225350,OMIM:61636611111465541111465541:g.111146554C>T-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.844C>T (p.Gln282Ter)3737KCNA2Uncertain significance-1RCV000812918; NMedGen:C4225350,OMIM:61636611111465611111465611:g.111146561G>A-
NM_004974.4(KCNA2):c.841G>A (p.Ala281Thr)3737KCNA2Uncertain significancers753926939RCV000705301; NMedGen:C4225350,OMIM:61636611111465641111465641:g.111146564C>T-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.788T>C (p.Ile263Thr)3737KCNA2Pathogenicrs786205231RCV000170512; NMedGen:C4225350,OMIM:61636611111466171111466171:g.111146617A>GOMIM Allelic Variant:176262.0002,UniProtKB (protein):P16389#VAR_073704C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.695G>C (p.Trp232Ser)3737KCNA2Uncertain significance-1RCV000792480; NMedGen:C4225350,OMIM:61636611111467101111467101:g.111146710C>G-
NM_004974.4(KCNA2):c.631G>A (p.Gly211Arg)3737KCNA2Uncertain significancers149727427RCV000706824; NMedGen:C4225350,OMIM:61636611111467741111467741:g.111146774C>T-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.565C>T (p.Arg189Trp)3737KCNA2Uncertain significancers770611476RCV000689902; NMedGen:C4225350,OMIM:61636611111468401111468401:g.111146840G>A-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.547G>A (p.Glu183Lys)3737KCNA2Uncertain significancers1553181398RCV000653132; NMedGen:C4225350,OMIM:61636611111468581111468581:g.111146858C>T-
NM_004974.4(KCNA2):c.318A>G (p.Leu106=)3737KCNA2Likely benignrs763135225RCV000545948; NMedGen:C4225350,OMIM:61636611111470871111470871:g.111147087T>C-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.282_283del (p.Gly96fs)3737KCNA2Uncertain significance-1RCV000803234; NMedGen:C4225350,OMIM:61636611111471221111471231:g.111147122_111147123del-
NM_004974.4(KCNA2):c.244C>T (p.Arg82Cys)3737KCNA2Uncertain significancers1433727837RCV000653136; NMedGen:C4225350,OMIM:61636611111471611111471611:g.111147161G>A-
NM_004974.4(KCNA2):c.238C>T (p.Arg80Trp)3737KCNA2Uncertain significancers1448937059RCV000704983; NMedGen:C4225350,OMIM:61636611111471671111471671:g.111147167G>A-
NM_004974.4(KCNA2):c.218G>A (p.Arg73Gln)3737KCNA2Uncertain significancers373042266RCV000705035; NMedGen:C4225350,OMIM:61636611111471871111471871:g.111147187C>T-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.4(KCNA2):c.217C>T (p.Arg73Ter)3737KCNA2Uncertain significance-1RCV000802363; NMedGen:C4225350,OMIM:61636611111471881111471881:g.111147188G>A-
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter)3737KCNA2Conflicting interpretations of pathogenicityrs763353895RCV000545168; NMedGen:C4225350,OMIM:61636611111472121111472121:g.111147212G>A-
NM_004974.4(KCNA2):c.156C>T (p.Ala52=)3737KCNA2Likely benignrs1444396267RCV000532563; NMedGen:C4225350,OMIM:61636611111472491111472491:g.111147249G>A-
NM_004974.4(KCNA2):c.68A>G (p.Tyr23Cys)3737KCNA2Uncertain significancers753829876RCV000558487; NMedGen:C4225350,OMIM:61636611111473371111473371:g.111147337T>C-
NM_004974.4(KCNA2):c.46C>T (p.Pro16Ser)3737KCNA2Uncertain significance-1RCV000821856; NMedGen:C4225350,OMIM:61636611111473591111473591:g.111147359G>A-
NM_004974.4(KCNA2):c.35C>T (p.Ala12Val)3737KCNA2Uncertain significance-1RCV000821582; NMedGen:C4225350,OMIM:61636611111473701111473701:g.111147370G>A-
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