DEE31
MCID: DVL057
MIFTS: 29

Developmental and Epileptic Encephalopathy 31 (DEE31)

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 31

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 31:

Name: Developmental and Epileptic Encephalopathy 31 57 12
Epileptic Encephalopathy, Early Infantile, 31 57 73 29 6
Eiee31 57 73
Dee31 57 12
Epileptic Encephalopathy, Early Infantile, 31; Eiee31 57
Encephalopathy, Epileptic, Early Infantile, Type 31 39
Early Infantile Epileptic Encephalopathy 31 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in first months of life
some patients may show normal early development before seizure onset
de novo mutations


HPO:

31
developmental and epileptic encephalopathy 31:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 31

OMIM® : 57 Developmental and epileptic encephalopathy-31 (DEE31) is a neurologic disorder characterized by the global developmental delay apparent in early infancy. Most individuals have onset of various types of refractory seizures in the first months or years of life, which exacerbates the psychomotor deficits. Patients have hypotonia and profound intellectual disability with absent speech and inability to walk or ataxic gait. Some patients may have additional syndromic features, including dysmorphic features or cortical visual impairment (summary by the EuroEPINOMICS-RES Consortium et al., 2014 and Deciphering Developmental Disorders Study, 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (616346) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 31, also known as epileptic encephalopathy, early infantile, 31, is related to lennox-gastaut syndrome and early infantile epileptic encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 31 is DNM1 (Dynamin 1). Related phenotypes are self-injurious behavior and global developmental delay

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has material basis in heterozygous mutation in the DNM1 gene on chromosome 9q34.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 31: 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 31

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 31 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lennox-gastaut syndrome 9.6 DNM1 CIZ1
2 early infantile epileptic encephalopathy 9.5 DNM1 CIZ1

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 31

Human phenotypes related to Developmental and Epileptic Encephalopathy 31:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 self-injurious behavior 31 occasional (7.5%) HP:0100716
2 global developmental delay 31 occasional (7.5%) HP:0001263
3 cerebral atrophy 31 occasional (7.5%) HP:0002059
4 intellectual disability 31 HP:0001249
5 developmental regression 31 HP:0002376
6 absent speech 31 HP:0001344
7 generalized hypotonia 31 HP:0001290
8 difficulty walking 31 HP:0002355
9 inability to walk 31 HP:0002540
10 hypsarrhythmia 31 HP:0002521
11 epileptic encephalopathy 31 HP:0200134
12 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
developmental regression
difficulty walking
inability to walk
epileptic encephalopathy
hypotonia
more
Head And Neck Eyes:
poor or absent visual fixation

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior (in some patients)

Clinical features from OMIM®:

616346 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 31

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 31

Genetic Tests for Developmental and Epileptic Encephalopathy 31

Genetic tests related to Developmental and Epileptic Encephalopathy 31:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 31 29 DNM1

Anatomical Context for Developmental and Epileptic Encephalopathy 31

Publications for Developmental and Epileptic Encephalopathy 31

Articles related to Developmental and Epileptic Encephalopathy 31:

# Title Authors PMID Year
1
Large-scale discovery of novel genetic causes of developmental disorders. 57 6
25533962 2015
2
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 57 6
25262651 2014
3
DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene. 6
29427836 2018
4
A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. 57
20700442 2010

Variations for Developmental and Epileptic Encephalopathy 31

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 31:

6 (show top 50) (show all 142)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNM1 NM_004408.4(DNM1):c.529G>C (p.Ala177Pro) SNV Pathogenic 156557 rs587777860 9:130981471-130981471 9:128219192-128219192
2 DNM1 NM_004408.4(DNM1):c.618G>C (p.Lys206Asn) SNV Pathogenic 156558 rs587777861 9:130982295-130982295 9:128220016-128220016
3 DNM1 NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) SNV Pathogenic 156559 rs587777862 9:130984823-130984823 9:128222544-128222544
4 DNM1 NM_004408.4(DNM1):c.865A>T (p.Ile289Phe) SNV Pathogenic 190311 rs1554774401 9:130984491-130984491 9:128222212-128222212
5 DNM1 NM_004408.4(DNM1):c.1036G>A (p.Gly346Ser) SNV Pathogenic 520433 rs1554774575 9:130984783-130984783 9:128222504-128222504
6 DNM1 NM_004408.4(DNM1):c.1090_1091insTTCCAC (p.Arg364_Ile365insLeuPro) Insertion Pathogenic 587399 rs1564332930 9:130984836-130984837 9:128222557-128222558
7 DNM1 NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg) SNV Pathogenic 520737 rs1554774587 9:130984822-130984822 9:128222543-128222543
8 CIZ1 NM_004408.4(DNM1):c.139G>A (p.Val47Met) SNV Pathogenic 224142 rs869312702 9:130965888-130965888 9:128203609-128203609
9 DNM1 NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) SNV Pathogenic 280148 rs760270633 9:130982480-130982480 9:128220201-128220201
10 DNM1 NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly) SNV Likely pathogenic 852280 9:130984828-130984828 9:128222549-128222549
11 DNM1 NM_004408.4(DNM1):c.532A>T (p.Asn178Tyr) SNV Likely pathogenic 982937 9:130981474-130981474 9:128219195-128219195
12 DNM1 NM_004408.4(DNM1):c.431C>T (p.Pro144Leu) SNV Likely pathogenic 827806 rs1588352395 9:130981373-130981373 9:128219094-128219094
13 CIZ1 NM_004408.4(DNM1):c.134G>A (p.Ser45Asn) SNV Likely pathogenic 520840 rs1554767317 9:130965883-130965883 9:128203604-128203604
14 DNM1 NM_004408.4(DNM1):c.442C>A (p.Gln148Lys) SNV Likely pathogenic 495249 rs1554772945 9:130981384-130981384 9:128219105-128219105
15 DNM1 NM_004408.4(DNM1):c.443A>G (p.Gln148Arg) SNV Likely pathogenic 542676 rs1554772959 9:130981385-130981385 9:128219106-128219106
16 DNM1 NM_004408.4(DNM1):c.465_467dup (p.Ile156_Arg157insMet) Duplication Likely pathogenic 374264 rs1057518655 9:130981406-130981407 9:128219127-128219128
17 DNM1 NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu) SNV Likely pathogenic 542678 rs1554781553 9:131004568-131004568 9:128242289-128242289
18 DNM1 NM_004408.4(DNM1):c.1358G>A (p.Arg453Gln) SNV Uncertain significance 476059 rs750296552 9:130996322-130996322 9:128234043-128234043
19 DNM1 NM_004408.4(DNM1):c.882G>A (p.Pro294=) SNV Uncertain significance 476070 rs559572430 9:130984508-130984508 9:128222229-128222229
20 DNM1 NM_004408.4(DNM1):c.1261C>T (p.Arg421Ter) SNV Uncertain significance 476058 rs200535620 9:130986594-130986594 9:128224315-128224315
21 DNM1 NM_004408.4(DNM1):c.2028C>G (p.Thr676=) SNV Uncertain significance 566237 rs1339784958 9:131010984-131010984 9:128248705-128248705
22 DNM1 NM_004408.4(DNM1):c.383A>G (p.His128Arg) SNV Uncertain significance 570619 rs368475266 9:130981008-130981008 9:128218729-128218729
23 DNM1 NM_004408.4(DNM1):c.1850A>G (p.Lys617Arg) SNV Uncertain significance 570645 rs1564352065 9:131009722-131009722 9:128247443-128247443
24 DNM1 NM_004408.4(DNM1):c.905G>A (p.Ser302Asn) SNV Uncertain significance 571345 rs1564332436 9:130984531-130984531 9:128222252-128222252
25 DNM1 NM_004408.4(DNM1):c.1872C>T (p.Gly624=) SNV Uncertain significance 625930 rs1367619284 9:131009744-131009744 9:128247465-128247465
26 DNM1 NM_004408.4(DNM1):c.2159A>G (p.Glu720Gly) SNV Uncertain significance 641490 rs1588457823 9:131012476-131012476 9:128250197-128250197
27 MIR199B NC_000009.12:g.(?_128242212)_(128247506_?)del Deletion Uncertain significance 647455 9:131004491-131009785 9:128242212-128247506
28 DNM1 NM_004408.4(DNM1):c.1246C>G (p.Gln416Glu) SNV Uncertain significance 647582 rs866836375 9:130986579-130986579 9:128224300-128224300
29 DNM1 NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys) SNV Uncertain significance 649733 rs1588449811 9:131009682-131009682 9:128247403-128247403
30 DNM1 NM_004408.4(DNM1):c.695T>C (p.Ile232Thr) SNV Uncertain significance 649956 rs766504829 9:130982466-130982466 9:128220187-128220187
31 DNM1 NM_004408.4(DNM1):c.1786G>A (p.Val596Ile) SNV Uncertain significance 651373 rs1588449769 9:131009658-131009658 9:128247379-128247379
32 DNM1 NM_004408.4(DNM1):c.643_646delinsA (p.Asp215_Ala216delinsThr) Indel Uncertain significance 654007 rs1588355906 9:130982320-130982323 9:128220041-128220044
33 CIZ1 NM_004408.4(DNM1):c.103G>T (p.Ala35Ser) SNV Uncertain significance 574393 rs1404767209 9:130965852-130965852 9:128203573-128203573
34 DNM1 NM_004408.4(DNM1):c.796C>T (p.Arg266Cys) SNV Uncertain significance 658850 rs138053929 9:130982567-130982567 9:128220288-128220288
35 DNM1 NM_004408.4(DNM1):c.604G>A (p.Gly202Arg) SNV Uncertain significance 392616 rs1057524561 9:130982281-130982281 9:128220002-128220002
36 DNM1 NM_004408.4(DNM1):c.402G>A (p.Leu134=) SNV Uncertain significance 663632 rs777767122 9:130981344-130981344 9:128219065-128219065
37 DNM1 NM_004408.4(DNM1):c.1401C>T (p.Arg467=) SNV Uncertain significance 847414 9:130996365-130996365 9:128234086-128234086
38 DNM1 NM_004408.4(DNM1):c.1390A>G (p.Ile464Val) SNV Uncertain significance 450933 rs992608425 9:130996354-130996354 9:128234075-128234075
39 DNM1 NM_004408.4(DNM1):c.2171G>A (p.Arg724Gln) SNV Uncertain significance 847592 9:131012488-131012488 9:128250209-128250209
40 DNM1 NM_004408.4(DNM1):c.804G>A (p.Leu268=) SNV Uncertain significance 847899 9:130982575-130982575 9:128220296-128220296
41 DNM1 NM_004408.4(DNM1):c.2253C>G (p.Ser751Arg) SNV Uncertain significance 851690 9:131012570-131012570 9:128250291-128250291
42 CIZ1 NM_004408.4(DNM1):c.112G>A (p.Gly38Ser) SNV Uncertain significance 430561 rs1131692025 9:130965861-130965861 9:128203582-128203582
43 DNM1 NM_004408.4(DNM1):c.985C>G (p.Leu329Val) SNV Uncertain significance 802515 rs868772525 9:130984611-130984611 9:128222332-128222332
44 DNM1 NM_004408.4(DNM1):c.775T>C (p.Phe259Leu) SNV Uncertain significance 838926 9:130982546-130982546 9:128220267-128220267
45 DNM1 NM_004408.4(DNM1):c.1196+5G>A SNV Uncertain significance 841307 9:130985144-130985144 9:128222865-128222865
46 DNM1 NM_004408.4(DNM1):c.2423C>T (p.Ala808Val) SNV Uncertain significance 933859 9:131013108-131013108 9:128250829-128250829
47 DNM1 NM_004408.4(DNM1):c.1888G>A (p.Val630Ile) SNV Uncertain significance 934964 9:131009760-131009760 9:128247481-128247481
48 DNM1 NM_004408.4(DNM1):c.350C>T (p.Pro117Leu) SNV Uncertain significance 944468 9:130980975-130980975 9:128218696-128218696
49 DNM1 NM_004408.4(DNM1):c.1928G>A (p.Gly643Asp) SNV Uncertain significance 950073 9:131010884-131010884 9:128248605-128248605
50 DNM1 NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys) SNV Uncertain significance 952061 9:130984849-130984849 9:128222570-128222570

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 31:

73
# Symbol AA change Variation ID SNP ID
1 DNM1 p.Ala177Pro VAR_073710 rs587777860
2 DNM1 p.Lys206Asn VAR_073711 rs587777861
3 DNM1 p.Arg237Trp VAR_073712 rs760270633
4 DNM1 p.Gly359Ala VAR_073713 rs587777862

Expression for Developmental and Epileptic Encephalopathy 31

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 31.

Pathways for Developmental and Epileptic Encephalopathy 31

GO Terms for Developmental and Epileptic Encephalopathy 31

Sources for Developmental and Epileptic Encephalopathy 31

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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