DEE42
MCID: DVL067
MIFTS: 31

Developmental and Epileptic Encephalopathy 42 (DEE42)

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 42

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 42:

Name: Developmental and Epileptic Encephalopathy 42 57 12
Epileptic Encephalopathy, Early Infantile, 42 57 73 29 6
Eiee42 57 73
Dee42 57 12
Epileptic Encephalopathy, Early Infantile, 42; Eiee42 57
Encephalopathy, Epileptic, Early Infantile, Type 42 39
Developemental and Epileptic Encephalopathy 42 57
Early Infantile Epileptic Encephalopathy 42 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth or early infancy
most mutations occur de novo


HPO:

31
developmental and epileptic encephalopathy 42:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 42

OMIM® : 57 Developmental and epileptic encephalopathy-42 (DEE42) is a neurologic disorder characterized by the onset of various types of seizures in the first hours or days of life, although rare patients may have onset in the first weeks of life. The seizures tend to be refractory and associated with EEG abnormalities, including multifocal spikes and generalized spike-wave complexes. Affected infants show global developmental delay with severely impaired intellectual development. Other features may include axial hypotonia, peripheral hypertonia with hyperreflexia, tremor, ataxia, and abnormal eye movements (summary by the Epi4K Consortium, 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617106) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 42, also known as epileptic encephalopathy, early infantile, 42, is related to early infantile epileptic encephalopathy and encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 42 is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A). Affiliated tissues include eye, and related phenotypes are intellectual disability and hyperreflexia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has material basis in heterozygous mutation in the CACNA1A gene on chromosome 19p13.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 42: 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. EIEE42 inheritance is autosomal dominant.

Related Diseases for Developmental and Epileptic Encephalopathy 42

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

Diseases related to Developmental and Epileptic Encephalopathy 42 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy 10.2
2 encephalopathy 10.2

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 42

Human phenotypes related to Developmental and Epileptic Encephalopathy 42:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hyperreflexia 31 HP:0001347
3 eeg abnormality 31 HP:0002353
4 nystagmus 31 HP:0000639
5 ataxia 31 HP:0001251
6 tremor 31 HP:0001337
7 global developmental delay 31 HP:0001263
8 hypertonia 31 HP:0001276
9 flexion contracture 31 HP:0001371
10 athetosis 31 HP:0002305
11 generalized hypotonia 31 HP:0001290
12 esotropia 31 HP:0000565
13 epileptic encephalopathy 31 HP:0200134
14 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
ataxia
tremor
athetosis
epileptic encephalopathy
more
Muscle Soft Tissue:
hypertonia
hypotonia

Prenatal Manifestations Movement:
abnormal fetal movements

Head And Neck Eyes:
nystagmus
strabismus
esotropia
abnormal eye movements

Skeletal:
contractures

Clinical features from OMIM®:

617106 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 42

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 42

Genetic Tests for Developmental and Epileptic Encephalopathy 42

Genetic tests related to Developmental and Epileptic Encephalopathy 42:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 42 29 CACNA1A

Anatomical Context for Developmental and Epileptic Encephalopathy 42

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 42:

40
Eye

Publications for Developmental and Epileptic Encephalopathy 42

Articles related to Developmental and Epileptic Encephalopathy 42:

# Title Authors PMID Year
1
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 57 6
27476654 2016
2
De novo mutations in epileptic encephalopathies. 6 57
23934111 2013
3
[Clinical manifestation and genetic analysis of a child with early infantile epileptic encephalopathy 42]. 61
33565063 2021

Variations for Developmental and Epileptic Encephalopathy 42

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 42:

6 (show top 50) (show all 639)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1A NM_001127222.2(CACNA1A):c.4519G>T (p.Ala1507Ser) SNV Pathogenic 254269 rs886037946 19:13368235-13368235 19:13257421-13257421
2 CACNA1A NM_001127222.2(CACNA1A):c.301G>C (p.Glu101Gln) SNV Pathogenic 254267 rs886037944 19:13566019-13566019 19:13455205-13455205
3 CACNA1A NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) SNV Pathogenic 420055 rs1064794261 19:13342531-13342531 19:13231717-13231717
4 CACNA1A NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn) SNV Pathogenic 976736 19:13373573-13373573 19:13262759-13262759
5 CACNA1A NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) SNV Pathogenic 254268 19:13414398-13414398 19:13303584-13303584
6 CACNA1A NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs) Deletion Pathogenic 476244 rs1555755909 19:13409518-13409543 19:13298704-13298729
7 CACNA1A NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) Deletion Pathogenic 446903 rs1555762855 19:13427960-13427981 19:13317146-13317167
8 CACNA1A NM_001127222.2(CACNA1A):c.1701G>A (p.Trp567Ter) SNV Pathogenic 476236 rs1555759066 19:13419310-13419310 19:13308496-13308496
9 CACNA1A NM_001127222.2(CACNA1A):c.1082+1G>A SNV Pathogenic 476232 rs1272886269 19:13446619-13446619 19:13335805-13335805
10 CACNA1A NM_001127222.2(CACNA1A):c.2039del (p.Gln680fs) Deletion Pathogenic 476239 rs1555757523 19:13414646-13414646 19:13303832-13303832
11 CACNA1A NM_001127222.2(CACNA1A):c.4426C>T (p.Gln1476Ter) SNV Pathogenic 476259 rs1555743942 19:13368328-13368328 19:13257514-13257514
12 CACNA1A NM_001127222.2(CACNA1A):c.1439del (p.Arg480fs) Deletion Pathogenic 476235 rs1555762908 19:13428042-13428042 19:13317228-13317228
13 CACNA1A NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) SNV Pathogenic 68432 rs121908247 19:13346507-13346507 19:13235693-13235693
14 CACNA1A NM_001127222.2(CACNA1A):c.2191G>T (p.Glu731Ter) SNV Pathogenic 542827 rs1555756737 19:13411452-13411452 19:13300638-13300638
15 CACNA1A NM_001127222.2(CACNA1A):c.2755G>T (p.Glu919Ter) SNV Pathogenic 542828 rs1555756130 19:13409692-13409692 19:13298878-13298878
16 CACNA1A NM_001127222.2(CACNA1A):c.2317_2319delinsAC (p.Val773fs) Indel Pathogenic 542835 rs1555756461 19:13410128-13410130 19:13299314-13299316
17 CACNA1A NM_001127222.2(CACNA1A):c.4950+1G>T SNV Pathogenic 567724 rs1568457080 19:13355995-13355995 19:13245181-13245181
18 CACNA1A NM_001127222.2(CACNA1A):c.1469G>A (p.Trp490Ter) SNV Pathogenic 573195 rs1568528144 19:13428012-13428012 19:13317198-13317198
19 CACNA1A NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del Deletion Pathogenic 560724 rs1568440440 19:13339581-13339582 19:13228767-13228768
20 CACNA1A NM_001127222.2(CACNA1A):c.1412dup (p.Glu472fs) Duplication Pathogenic 580312 rs1568528298 19:13428068-13428069 19:13317254-13317255
21 CACNA1A NC_000019.10:g.(?_13359586)_(13359819_?)del Deletion Pathogenic 583770 19:13470400-13470633 19:13359586-13359819
22 CACNA1A NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) SNV Pathogenic 8507 rs121909324 19:13366031-13366031 19:13255217-13255217
23 CACNA1A NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) SNV Pathogenic 254268 19:13414398-13414398 19:13303584-13303584
24 CACNA1A NM_001127222.2(CACNA1A):c.4291C>T (p.Arg1431Ter) SNV Pathogenic 565995 rs1568470104 19:13370475-13370475 19:13259661-13259661
25 CACNA1A NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter) SNV Pathogenic 583270 rs779221807 19:13323018-13323018 19:13212204-13212204
26 CACNA1A NM_001127222.2(CACNA1A):c.2022C>A (p.Tyr674Ter) SNV Pathogenic 642562 rs940460024 19:13414663-13414663 19:13303849-13303849
27 CACNA1A NM_001127222.2(CACNA1A):c.3532del (p.Leu1178fs) Deletion Pathogenic 644525 rs757953057 19:13397338-13397338 19:13286524-13286524
28 CACNA1A NM_001127222.2(CACNA1A):c.5115T>G (p.Tyr1705Ter) SNV Pathogenic 645463 rs1600139005 19:13346041-13346041 19:13235227-13235227
29 CACNA1A NM_001127222.2(CACNA1A):c.1247_1248dup (p.Phe417fs) Duplication Pathogenic 648071 rs1600353301 19:13443689-13443690 19:13332875-13332876
30 CACNA1A NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter) SNV Pathogenic 650263 rs886042230 19:13482541-13482541 19:13371727-13371727
31 CACNA1A NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) SNV Pathogenic 8488 rs121908212 19:13414691-13414691 19:13303877-13303877
32 CACNA1A NM_001127222.2(CACNA1A):c.2408G>A (p.Trp803Ter) SNV Pathogenic 650983 rs1600274038 19:13410039-13410039 19:13299225-13299225
33 CACNA1A NM_001127222.2(CACNA1A):c.3533del (p.Leu1178fs) Deletion Pathogenic 659920 rs1568494824 19:13397337-13397337 19:13286523-13286523
34 CACNA1A NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter) SNV Pathogenic 660390 rs1600139781 19:13346439-13346439 19:13235625-13235625
35 CACNA1A NM_001127222.2(CACNA1A):c.928_931del (p.Thr310fs) Deletion Pathogenic 660404 rs1599276830 19:13470467-13470470 19:13359653-13359656
36 CACNA1A NC_000019.10:g.(?_13275830)_(13277148_?)del Deletion Pathogenic 652963 19:13386644-13387962 19:13275830-13277148
37 CACNA1A NM_001127222.2(CACNA1A):c.5637del (p.Met1880fs) Deletion Pathogenic 655727 rs1600114562 19:13335575-13335575 19:13224761-13224761
38 CACNA1A NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter) SNV Pathogenic 585570 rs1568473233 19:13373604-13373604 19:13262790-13262790
39 CACNA1A NM_001127222.2(CACNA1A):c.1434C>G (p.Tyr478Ter) SNV Pathogenic 657621 rs767432719 19:13428047-13428047 19:13317233-13317233
40 CACNA1A NC_000019.10:g.(?_13298534)_(13300666_?)del Deletion Pathogenic 832102 19:13409348-13411480
41 CACNA1A NC_000019.10:g.(?_13300530)_(13300676_?)del Deletion Pathogenic 832219 19:13411344-13411490
42 CACNA1A NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) Deletion Pathogenic 837522 19:13423504-13423504 19:13312690-13312690
43 CACNA1A NM_001127222.2(CACNA1A):c.2357del (p.Leu786fs) Deletion Pathogenic 839990 19:13410090-13410090 19:13299276-13299276
44 CACNA1A NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter) SNV Pathogenic 835237 19:13423516-13423516 19:13312702-13312702
45 CACNA1A NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) SNV Pathogenic 8510 rs121909326 19:13346033-13346033 19:13235219-13235219
46 CACNA1A NM_001127222.2(CACNA1A):c.1744C>T (p.Arg582Ter) SNV Pathogenic 848756 19:13419267-13419267 19:13308453-13308453
47 CACNA1A NM_001127222.2(CACNA1A):c.4249C>T (p.Arg1417Ter) SNV Pathogenic 862804 19:13372265-13372265 19:13261451-13261451
48 CACNA1A NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter) SNV Pathogenic 808476 rs1600273534 19:13409896-13409896 19:13299082-13299082
49 CACNA1A NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) Deletion Pathogenic 420056 rs1064794262 19:13414645-13414646 19:13303831-13303832
50 CACNA1A NM_001127222.2(CACNA1A):c.5529-1231C>T SNV Pathogenic 857862 19:13339572-13339572 19:13228758-13228758

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 42:

73
# Symbol AA change Variation ID SNP ID
1 CACNA1A p.Glu101Gln VAR_077071 rs886037944
2 CACNA1A p.Ala712Thr VAR_077072 rs886037945
3 CACNA1A p.Trp1435Arg VAR_077073
4 CACNA1A p.Ala1507Ser VAR_077075 rs886037946

Expression for Developmental and Epileptic Encephalopathy 42

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 42.

Pathways for Developmental and Epileptic Encephalopathy 42

GO Terms for Developmental and Epileptic Encephalopathy 42

Sources for Developmental and Epileptic Encephalopathy 42

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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