DEE69
MCID: DVL093
MIFTS: 24

Developmental and Epileptic Encephalopathy 69 (DEE69)

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 69

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 69:

Name: Developmental and Epileptic Encephalopathy 69 57 12
Developmental and Epileptic Encephalopathy, 69 29 6
Epileptic Encephalopathy, Early Infantile, 69 57 73
Eiee69 57 73
Dee69 57 12
Epileptic Encephalopathy, Early Infantile, 69; Eiee69 57
Early Infantile Epileptic Encephalopathy 69 12

Characteristics:

OMIM®:

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

Miscellaneous:
de novo mutation
death in childhood (in some patients)
variable age at seizure onset
most patients have onset of seizures in the first months of life
later onset of seizures in the first year of life may also occur
topiramate may have a favorable response on seizures


HPO:

31
developmental and epileptic encephalopathy 69:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 69

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 69: 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. EIEE69 is an autosomal dominant form characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development often associated with macrocephaly, hyperkinetic movements, and contractures. The disorder can sometimes result in early death. Some patients may have a favorable seizure response to topiramate medication.

MalaCards based summary : Developmental and Epileptic Encephalopathy 69, is also known as developmental and epileptic encephalopathy, 69. An important gene associated with Developmental and Epileptic Encephalopathy 69 is CACNA1E (Calcium Voltage-Gated Channel Subunit Alpha1 E). Affiliated tissues include eye, and related phenotypes are macrocephaly and hyperreflexia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has material basis in heterozygous mutation in CACNA1E on chromosome 1q25.3.

OMIM® : 57 Developmental and epileptic encephalopathy-69 (DEE69) is an autosomal dominant severe neurodevelopmental encephalopathic disorder characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development often associated with macrocephaly, hyperkinetic movements, and contractures. The disorder can sometimes result in early death. Some patients may have a favorable seizure response to topiramate medication (summary by Helbig et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618285) (Updated 05-Mar-2021)

Related Diseases for Developmental and Epileptic Encephalopathy 69

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 69

Human phenotypes related to Developmental and Epileptic Encephalopathy 69:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 very rare (1%) HP:0000256
2 hyperreflexia 31 HP:0001347
3 nystagmus 31 HP:0000639
4 spastic tetraplegia 31 HP:0002510
5 myoclonus 31 HP:0001336
6 absent speech 31 HP:0001344
7 cerebral cortical atrophy 31 HP:0002120
8 dystonia 31 HP:0001332
9 arthrogryposis multiplex congenita 31 HP:0002804
10 status epilepticus 31 HP:0002133
11 muscular hypotonia of the trunk 31 HP:0008936
12 inability to walk 31 HP:0002540
13 cerebral visual impairment 31 HP:0100704
14 hypsarrhythmia 31 HP:0002521
15 epileptic encephalopathy 31 HP:0200134
16 corpus callosum atrophy 31 HP:0007371
17 hyperkinetic movements 31 HP:0002487

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
myoclonus
absent speech
dystonia
status epilepticus
more
Skeletal:
arthrogryposis
congenital contractures

Muscle Soft Tissue:
appendicular hypertonia
axial hypotonia, severe

Head And Neck Eyes:
nystagmus
roving eye movements
cortical visual impairment
poor or absent eye contact

Head And Neck Head:
macrocephaly (in some patients)

Clinical features from OMIM®:

618285 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 69

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 69

Genetic Tests for Developmental and Epileptic Encephalopathy 69

Genetic tests related to Developmental and Epileptic Encephalopathy 69:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 69 29 CACNA1E

Anatomical Context for Developmental and Epileptic Encephalopathy 69

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 69:

40
Eye

Publications for Developmental and Epileptic Encephalopathy 69

Articles related to Developmental and Epileptic Encephalopathy 69:

# Title Authors PMID Year
1
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 6 57
30343943 2018

Variations for Developmental and Epileptic Encephalopathy 69

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 69:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1E NM_001205293.3(CACNA1E):c.1807A>C (p.Ile603Leu) SNV Pathogenic 390468 rs778291283 1:181689397-181689397 1:181720261-181720261
2 CACNA1E NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser) SNV Pathogenic 224995 rs869312920 1:181693624-181693624 1:181724488-181724488
3 CACNA1E NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val) SNV Pathogenic 617451 rs1558308998 1:181693632-181693632 1:181724496-181724496
4 CACNA1E NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) SNV Pathogenic 521483 rs12131800 1:181693635-181693635 1:181724499-181724499
5 CACNA1E NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) SNV Pathogenic 265066 rs886039323 1:181620576-181620576 1:181651440-181651440
6 CACNA1E NM_001205293.3(CACNA1E):c.4004A>T (p.Asp1335Val) SNV Likely pathogenic 989253 1:181725106-181725106 1:181755970-181755970
7 CACNA1E NM_001205293.3(CACNA1E):c.1580_1581delinsAA (p.Met527Lys) Indel Uncertain significance 690291 rs1572690989 1:181687245-181687246 1:181718109-181718110
8 CACNA1E NM_001205293.3(CACNA1E):c.6856C>T (p.Arg2286Trp) SNV Uncertain significance 800996 rs762766720 1:181767884-181767884 1:181798748-181798748
9 CACNA1E NM_001205293.3(CACNA1E):c.2108T>G (p.Val703Gly) SNV Uncertain significance 804239 rs1572706648 1:181693639-181693639 1:181724503-181724503
10 CACNA1E NM_001205293.3(CACNA1E):c.6605G>A (p.Ser2202Asn) SNV Uncertain significance 931176 1:181767633-181767633 1:181798497-181798497
11 CACNA1E NM_001205293.3(CACNA1E):c.2105C>T (p.Ala702Val) SNV Uncertain significance 931757 1:181693636-181693636 1:181724500-181724500
12 CACNA1E NM_001205293.3(CACNA1E):c.6818G>A (p.Arg2273Gln) SNV Uncertain significance 976282 1:181767846-181767846 1:181798710-181798710
13 CACNA1E NM_001205293.3(CACNA1E):c.499G>A (p.Val167Met) SNV Uncertain significance 982596 1:181480633-181480633 1:181511497-181511497
14 CACNA1E NM_001205293.3(CACNA1E):c.5816G>T (p.Ser1939Ile) SNV Uncertain significance 983031 1:181759610-181759610 1:181790474-181790474

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 69:

73 (show all 14)
# Symbol AA change Variation ID SNP ID
1 CACNA1E p.Leu228Pro VAR_081838 rs155328628
2 CACNA1E p.Gly348Arg VAR_081839
3 CACNA1E p.Gly352Arg VAR_081840 rs886039323
4 CACNA1E p.Ile603Leu VAR_081841 rs778291283
5 CACNA1E p.Gly690Asp VAR_081842 rs136108325
6 CACNA1E p.Phe698Ser VAR_081843 rs869312920
7 CACNA1E p.Ala700Thr VAR_081844
8 CACNA1E p.Ile701Val VAR_081845
9 CACNA1E p.Ala702Pro VAR_081846 rs12131800
10 CACNA1E p.Ala702Thr VAR_081847 rs12131800
11 CACNA1E p.Ile1422Phe VAR_081850
12 CACNA1E p.Thr1425Asn VAR_081851
13 CACNA1E p.Gly1430Arg VAR_081852 rs155334584
14 CACNA1E p.Ala1720Gly VAR_081853

Expression for Developmental and Epileptic Encephalopathy 69

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 69.

Pathways for Developmental and Epileptic Encephalopathy 69

GO Terms for Developmental and Epileptic Encephalopathy 69

Sources for Developmental and Epileptic Encephalopathy 69

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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