DEE32
MCID: DVL058
MIFTS: 25

Developmental and Epileptic Encephalopathy 32 (DEE32)

Categories: Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Developmental and Epileptic Encephalopathy 32

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 32:

Name: Developmental and Epileptic Encephalopathy 32 57 12
Epileptic Encephalopathy, Early Infantile, 32 57 73 29 6
Eiee32 57 73
Dee32 57 12
Epileptic Encephalopathy, Early Infantile, 32; Eiee32 57
Encephalopathy, Epileptic, Early Infantile, Type 32 39
Early Infantile Epileptic Encephalopathy 32 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
normal development before onset of seizures
seizures may remit later in childhood


HPO:

31
developmental and epileptic encephalopathy 32:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080416
OMIM® 57 616366
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 32

OMIM® : 57 Developmental and epileptic encephalopathy-32 (DEE32) is a neurologic disorder characterized by the onset of various seizure types, including febrile and myoclonic seizures, between about 5 and 17 months of age after normal early development. Thereafter, patients manifest global developmental delay or developmental regression with impaired intellectual development and poor or absent speech. Some may be able to attend special schools. Other features include ataxia with difficulty walking, deficient fine motor skills, tremor, and dysarthria. The seizures are initially refractory in some cases, but may remit later during childhood; however, neurologic deficits persist (summary by Syrbe et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (616366) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 32, is also known as epileptic encephalopathy, early infantile, 32. An important gene associated with Developmental and Epileptic Encephalopathy 32 is KCNA2 (Potassium Voltage-Gated Channel Subfamily A Member 2). Related phenotypes are intellectual disability and ataxia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has material basis in heterozygous mutation in the KCNA2 gene on chromosome 1p13.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 32: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent.

Related Diseases for Developmental and Epileptic Encephalopathy 32

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 32

Human phenotypes related to Developmental and Epileptic Encephalopathy 32:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 ataxia 31 HP:0001251
3 tremor 31 HP:0001337
4 myoclonus 31 HP:0001336
5 absent speech 31 HP:0001344
6 epileptic encephalopathy 31 HP:0200134
7 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
ataxia
tremor
myoclonus
epileptic encephalopathy
seizures, refractory
more

Clinical features from OMIM®:

616366 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 32

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 32

Genetic Tests for Developmental and Epileptic Encephalopathy 32

Genetic tests related to Developmental and Epileptic Encephalopathy 32:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 32 29 KCNA2

Anatomical Context for Developmental and Epileptic Encephalopathy 32

Publications for Developmental and Epileptic Encephalopathy 32

Articles related to Developmental and Epileptic Encephalopathy 32:

# Title Authors PMID Year
1
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 57 6
25751627 2015
2
Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 57 6
25477152 2015
3
A new Kv1.2 channelopathy underlying cerebellar ataxia. 57
20696761 2010

Variations for Developmental and Epileptic Encephalopathy 32

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 32:

6 (show top 50) (show all 88)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNA2 NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu) SNV Pathogenic 190325 1:111146191-111146191 1:110603569-110603569
2 KCNA2 NM_004974.4(KCNA2):c.894G>T (p.Leu298Phe) SNV Pathogenic 190327 rs876657390 1:111146511-111146511 1:110603889-110603889
3 KCNA2 NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) SNV Pathogenic 190328 rs786205232 1:111146515-111146515 1:110603893-110603893
4 KCNA2 NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala) SNV Pathogenic 559647 rs1553181280 1:111146285-111146285 1:110603663-110603663
5 KCNA2 NM_004974.4(KCNA2):c.881G>A (p.Arg294His) SNV Pathogenic 280584 rs886041761 1:111146524-111146524 1:110603902-110603902
6 KCNA2 NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala) SNV Pathogenic 666316 rs1570752696 1:111146182-111146182 1:110603560-110603560
7 KCNA2 NC_000001.11:g.(?_110593873)_(110604802_?)del Deletion Pathogenic 830850 1:111136495-111147424
8 KCNA2 NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter) SNV Likely pathogenic 974565 1:111147107-111147107 1:110604485-110604485
9 KCNA2 NM_004974.4(KCNA2):c.929A>G (p.His310Arg) SNV Likely pathogenic 975835 1:111146476-111146476 1:110603854-110603854
10 KCNA2 NM_004974.4(KCNA2):c.1223T>G (p.Val408Gly) SNV Likely pathogenic 853263 1:111146182-111146182 1:110603560-110603560
11 KCNA2 NM_004974.4(KCNA2):c.1263_1264AG[1] (p.Glu422fs) Microsatellite Likely pathogenic 423204 rs1064796294 1:111146139-111146140 1:110603517-110603518
12 KCNA2 NM_004974.4(KCNA2):c.1219C>G (p.Pro407Ala) SNV Likely pathogenic 623699 rs1557731896 1:111146186-111146186 1:110603564-110603564
13 KCNA2 NM_004974.4(KCNA2):c.1195G>A (p.Val399Met) SNV Likely pathogenic 420845 rs1064794738 1:111146210-111146210 1:110603588-110603588
14 KCNA2 NM_004974.4(KCNA2):c.788T>C (p.Ile263Thr) SNV Likely pathogenic 190326 rs786205231 1:111146617-111146617 1:110603995-110603995
15 KCNA2 NM_004974.4(KCNA2):c.959C>T (p.Thr320Ile) SNV Likely pathogenic 495271 rs1553181323 1:111146446-111146446 1:110603824-110603824
16 KCNA2 NM_004974.4(KCNA2):c.1013G>A (p.Gly338Glu) SNV Likely pathogenic 542660 rs1553181301 1:111146392-111146392 1:110603770-110603770
17 KCNA2 NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter) SNV Conflicting interpretations of pathogenicity 476049 rs763353895 1:111147212-111147212 1:110604590-110604590
18 KCNA2 NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile) SNV Conflicting interpretations of pathogenicity 452594 rs1553181282 1:111146287-111146287 1:110603665-110603665
19 KCNA2 NM_004974.4(KCNA2):c.68A>G (p.Tyr23Cys) SNV Uncertain significance 476053 rs753829876 1:111147337-111147337 1:110604715-110604715
20 KCNA2 NM_004974.4(KCNA2):c.631G>A (p.Gly211Arg) SNV Uncertain significance 582691 rs149727427 1:111146774-111146774 1:110604152-110604152
21 KCNA2 NM_004974.4(KCNA2):c.961C>T (p.Leu321Phe) SNV Uncertain significance 583343 rs1557732226 1:111146444-111146444 1:110603822-110603822
22 KCNA2 NM_004974.4(KCNA2):c.895G>C (p.Val299Leu) SNV Uncertain significance 476054 rs1553181334 1:111146510-111146510 1:110603888-110603888
23 KCNA2 NM_004974.4(KCNA2):c.1208C>T (p.Ala403Val) SNV Uncertain significance 871870 1:111146197-111146197 1:110603575-110603575
24 KCNA2 NM_004974.4(KCNA2):c.754A>G (p.Thr252Ala) SNV Uncertain significance 948350 1:111146651-111146651 1:110604029-110604029
25 KCNA2 NM_004974.4(KCNA2):c.235G>A (p.Asp79Asn) SNV Uncertain significance 951627 1:111147170-111147170 1:110604548-110604548
26 KCNA2 NM_004974.4(KCNA2):c.47C>G (p.Pro16Arg) SNV Uncertain significance 952381 1:111147358-111147358 1:110604736-110604736
27 KCNA2 NM_004974.4(KCNA2):c.1215G>A (p.Pro405=) SNV Uncertain significance 955902 1:111146190-111146190 1:110603568-110603568
28 KCNA2 NM_004974.4(KCNA2):c.625A>G (p.Thr209Ala) SNV Uncertain significance 956614 1:111146780-111146780 1:110604158-110604158
29 KCNA2 NM_004974.4(KCNA2):c.170C>T (p.Thr57Ile) SNV Uncertain significance 962503 1:111147235-111147235 1:110604613-110604613
30 KCNA2 NM_004974.4(KCNA2):c.1214C>G (p.Pro405Arg) SNV Uncertain significance 966763 1:111146191-111146191 1:110603569-110603569
31 KCNA2 NM_004974.4(KCNA2):c.737G>T (p.Ser246Ile) SNV Uncertain significance 971175 1:111146668-111146668 1:110604046-110604046
32 KCNA2 NM_004974.4(KCNA2):c.682_683CT[1] (p.Cys229fs) Microsatellite Uncertain significance 843796 1:111146720-111146721 1:110604098-110604099
33 KCNA2 NM_004974.4(KCNA2):c.782T>C (p.Val261Ala) SNV Uncertain significance 845684 1:111146623-111146623 1:110604001-110604001
34 KCNA2 NM_004974.4(KCNA2):c.761T>A (p.Ile254Asn) SNV Uncertain significance 849504 1:111146644-111146644 1:110604022-110604022
35 KCNA2 NM_004974.4(KCNA2):c.745G>A (p.Gly249Ser) SNV Uncertain significance 850411 1:111146660-111146660 1:110604038-110604038
36 KCNA2 NM_004974.4(KCNA2):c.239G>A (p.Arg80Gln) SNV Uncertain significance 852778 1:111147166-111147166 1:110604544-110604544
37 KCNA2 NM_004974.4(KCNA2):c.351G>T (p.Glu117Asp) SNV Uncertain significance 854988 1:111147054-111147054 1:110604432-110604432
38 KCNA2 NM_004974.4(KCNA2):c.1061G>A (p.Arg354Gln) SNV Uncertain significance 855444 1:111146344-111146344 1:110603722-110603722
39 KCNA2 NM_004974.4(KCNA2):c.466C>T (p.Pro156Ser) SNV Uncertain significance 862623 1:111146939-111146939 1:110604317-110604317
40 KCNA2 NM_004974.4(KCNA2):c.1256G>A (p.Arg419Gln) SNV Uncertain significance 476047 rs1296710118 1:111146149-111146149 1:110603527-110603527
41 KCNA2 NM_004974.4(KCNA2):c.547G>A (p.Glu183Lys) SNV Uncertain significance 542661 rs1553181398 1:111146858-111146858 1:110604236-110604236
42 KCNA2 NM_004974.4(KCNA2):c.1154T>C (p.Ile385Thr) SNV Uncertain significance 542662 rs1197586006 1:111146251-111146251 1:110603629-110603629
43 KCNA2 NM_004974.4(KCNA2):c.1031dup (p.Ser344fs) Duplication Uncertain significance 542663 rs1553181298 1:111146373-111146374 1:110603751-110603752
44 KCNA2 NM_004974.4(KCNA2):c.1304G>C (p.Cys435Ser) SNV Uncertain significance 542664 rs1553181236 1:111146101-111146101 1:110603479-110603479
45 KCNA2 NM_004974.4(KCNA2):c.244C>T (p.Arg82Cys) SNV Uncertain significance 542665 rs1433727837 1:111147161-111147161 1:110604539-110604539
46 KCNA2 NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe) SNV Uncertain significance 542666 rs1553181257 1:111146189-111146189 1:110603567-110603567
47 KCNA2 NM_004974.4(KCNA2):c.695G>C (p.Trp232Ser) SNV Uncertain significance 639637 rs1570753354 1:111146710-111146710 1:110604088-110604088
48 KCNA2 NM_004974.4(KCNA2):c.217C>T (p.Arg73Ter) SNV Uncertain significance 647782 rs1570753974 1:111147188-111147188 1:110604566-110604566
49 KCNA2 NM_004974.4(KCNA2):c.282_283del (p.Gly96fs) Deletion Uncertain significance 648490 rs1570753862 1:111147122-111147123 1:110604500-110604501
50 KCNA2 NM_004974.4(KCNA2):c.844C>T (p.Gln282Ter) SNV Uncertain significance 656486 rs1570753182 1:111146561-111146561 1:110603939-110603939

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 32:

73
# Symbol AA change Variation ID SNP ID
1 KCNA2 p.Ile263Thr VAR_073704 rs786205231
2 KCNA2 p.Arg297Gln VAR_073705 rs786205232
3 KCNA2 p.Leu298Phe VAR_073706 rs876657390
4 KCNA2 p.Pro405Leu VAR_073707 rs876657389

Expression for Developmental and Epileptic Encephalopathy 32

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 32.

Pathways for Developmental and Epileptic Encephalopathy 32

GO Terms for Developmental and Epileptic Encephalopathy 32

Sources for Developmental and Epileptic Encephalopathy 32

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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