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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_004974.3(KCNA2):c.1392T>G (p.Gly464=)3737KCNA2Benign115456625RCV000552121; RCV000720504; RCV000516271; NMedGen:C4225350,OMIM:616366; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN1693741111146013111146013-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.1304G>C (p.Cys435Ser)3737KCNA2Uncertain significance1553181236RCV000653135; NMedGen:C4225350,OMIM:6163661111146101111146101-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.1299A>T (p.Thr433=)3737KCNA2Benign/Likely benign80034565RCV000653138; RCV000720250; NMedGen:C4225350,OMIM:616366; Human Phenotype Ontology:HP:0001250,MedGen:C00365721111146106111146106-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.1256G>A (p.Arg419Gln)3737KCNA2Uncertain significance1296710118RCV000539492; NMedGen:C4225350,OMIM:6163661111146149111146149-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.1216G>T (p.Val406Phe)3737KCNA2Uncertain significance1553181257RCV000653137; NMedGen:C4225350,OMIM:6163661111146189111146189-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.1214C>T (p.Pro405Leu)3737KCNA2Pathogenic876657389RCV000170511; RCV000407449; NMedGen:C4225350,OMIM:616366; MedGen:CN5172021111146191111146191OMIM Allelic Variant:176262.0001,UniProtKB (protein):P16389#VAR_073707C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.1195G>A (p.Val399Met)3737KCNA2Likely pathogenic1064794738RCV000723323; RCV000483386; NMedGen:C4225350,OMIM:616366; MedGen:CN5172021111146210111146210-CN517202 not provided;
NM_004974.3(KCNA2):c.1185G>A (p.Ala395=)3737KCNA2Benign78349687RCV000531763; NMedGen:C4225350,OMIM:6163661111146220111146220-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.1154T>C (p.Ile385Thr)3737KCNA2Uncertain significance1197586006RCV000653133; NMedGen:C4225350,OMIM:6163661111146251111146251-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.1145C>T (p.Pro382Leu)3737KCNA2Uncertain significance-1RCV000702425; NMedGen:C4225350,OMIM:6163661111146260111146260-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.1127G>C (p.Gly376Ala)3737KCNA2Uncertain significance-1RCV000699887; NMedGen:C4225350,OMIM:6163661111146278111146278-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.1120A>G (p.Thr374Ala)3737KCNA2Pathogenic1553181280RCV000677419; NMedGen:C4225350,OMIM:6163661111146285111146285-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.1107C>T (p.Val369=)3737KCNA2Likely benign141466713RCV000555594; NMedGen:C4225350,OMIM:6163661111146298111146298-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.1031dup (p.Ser344Argfs)3737KCNA2Uncertain significance1553181298RCV000653134; NMedGen:C4225350,OMIM:6163661111146374111146374-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.1028C>T (p.Ser343Phe)3737KCNA2Uncertain significance-1RCV000701882; NMedGen:C4225350,OMIM:6163661111146377111146377-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.1013G>A (p.Gly338Glu)3737KCNA2Likely pathogenic1553181301RCV000653131; NMedGen:C4225350,OMIM:6163661111146392111146392-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.997T>C (p.Phe333Leu)3737KCNA2Uncertain significance-1RCV000697415; NMedGen:C4225350,OMIM:6163661111146408111146408-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.961C>T (p.Leu321Phe)3737KCNA2Uncertain significance-1RCV000707653; NMedGen:C4225350,OMIM:6163661111146444111146444-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.959C>T (p.Thr320Ile)3737KCNA2Likely pathogenic1553181323RCV000585826; NMedGen:C4225350,OMIM:6163661111146446111146446-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.895G>C (p.Val299Leu)3737KCNA2Uncertain significance1553181334RCV000547025; NMedGen:C4225350,OMIM:6163661111146510111146510-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.894G>T (p.Leu298Phe)3737KCNA2Pathogenic876657390RCV000170513; NMedGen:C4225350,OMIM:6163661111146511111146511OMIM Allelic Variant:176262.0003,UniProtKB (protein):P16389#VAR_073706C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.890G>A (p.Arg297Gln)3737KCNA2Pathogenic786205232RCV000170514; RCV000622743; RCV000264400; NMedGen:C4225350,OMIM:616366; MeSH:D030342,MedGen:C0950123; MedGen:CN5172021111146515111146515OMIM Allelic Variant:176262.0004,UniProtKB (protein):P16389#VAR_073705C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.881G>A (p.Arg294His)3737KCNA2Conflicting interpretations of pathogenicity886041761RCV000706154; RCV000622695; RCV000339475; NMedGen:C4225350,OMIM:616366; MeSH:D030342,MedGen:C0950123; MedGen:CN5172021111146524111146524-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.851G>A (p.Gly284Asp)3737KCNA2Uncertain significance-1RCV000701240; NMedGen:C4225350,OMIM:6163661111146554111146554-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.841G>A (p.Ala281Thr)3737KCNA2Uncertain significance-1RCV000705301; NMedGen:C4225350,OMIM:6163661111146564111146564-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.807C>T (p.Thr269=)3737KCNA2Benign/Likely benign146036196RCV000653139; RCV000720441; NMedGen:C4225350,OMIM:616366; Human Phenotype Ontology:HP:0001250,MedGen:C00365721111146598111146598-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.788T>C (p.Ile263Thr)3737KCNA2Pathogenic786205231RCV000170512; NMedGen:C4225350,OMIM:6163661111146617111146617OMIM Allelic Variant:176262.0002,UniProtKB (protein):P16389#VAR_073704C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.631G>A (p.Gly211Arg)3737KCNA2Uncertain significance-1RCV000706824; NMedGen:C4225350,OMIM:6163661111146774111146774-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.565C>T (p.Arg189Trp)3737KCNA2Uncertain significance-1RCV000689902; NMedGen:C4225350,OMIM:6163661111146840111146840-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.547G>A (p.Glu183Lys)3737KCNA2Uncertain significance1553181398RCV000653132; NMedGen:C4225350,OMIM:6163661111146858111146858-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.372G>A (p.Glu124=)3737KCNA2Conflicting interpretations of pathogenicity200499541RCV000653140; RCV000512962; NMedGen:C4225350,OMIM:616366; MedGen:CN5172021111147033111147033-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.318A>G (p.Leu106=)3737KCNA2Likely benign763135225RCV000545948; NMedGen:C4225350,OMIM:6163661111147087111147087-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.276C>T (p.Tyr92=)3737KCNA2Likely benign1553181436RCV000533613; NMedGen:C4225350,OMIM:6163661111147129111147129-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.244C>T (p.Arg82Cys)3737KCNA2Uncertain significance1433727837RCV000653136; NMedGen:C4225350,OMIM:6163661111147161111147161-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.238C>T (p.Arg80Trp)3737KCNA2Uncertain significance-1RCV000704983; NMedGen:C4225350,OMIM:6163661111147167111147167-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.218G>A (p.Arg73Gln)3737KCNA2Uncertain significance-1RCV000705035; NMedGen:C4225350,OMIM:6163661111147187111147187-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.213C>T (p.Pro71=)3737KCNA2Benign/Likely benign116111724RCV000557421; RCV000718116; NMedGen:C4225350,OMIM:616366; Human Phenotype Ontology:HP:0001250,MedGen:C00365721111147192111147192-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.193C>T (p.Arg65Ter)3737KCNA2Uncertain significance763353895RCV000545168; NMedGen:C4225350,OMIM:6163661111147212111147212-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.156C>T (p.Ala52=)3737KCNA2Likely benign1444396267RCV000532563; NMedGen:C4225350,OMIM:6163661111147249111147249-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_004974.3(KCNA2):c.68A>G (p.Tyr23Cys)3737KCNA2Likely pathogenic753829876RCV000558487; NMedGen:C4225350,OMIM:6163661111147337111147337-C4225350 616366 Epileptic encephalopathy, early infantile, 32;
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