MCID: EPL151
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 31

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 31

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 31:

Name: Epileptic Encephalopathy, Early Infantile, 31 57 75 29 6
Eiee31 57 75
Encephalopathy, Epileptic, Early Infantile, Type 31 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epileptic encephalopathy, early infantile, 31:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 31

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 31, is also known as eiee31. An important gene associated with Epileptic Encephalopathy, Early Infantile, 31 is DNM1 (Dynamin 1). Related phenotypes are intellectual disability and seizures

Description from OMIM: 616346

Related Diseases for Epileptic Encephalopathy, Early Infantile, 31

Diseases in the Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 25
Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 27
Epileptic Encephalopathy, Early Infantile, 28 Epileptic Encephalopathy, Early Infantile, 29
Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 31
Epileptic Encephalopathy, Early Infantile, 32 Epileptic Encephalopathy, Early Infantile, 33
Epileptic Encephalopathy, Early Infantile, 50 Epileptic Encephalopathy, Early Infantile, 34
Epileptic Encephalopathy, Early Infantile, 35 Epileptic Encephalopathy, Early Infantile, 37
Epileptic Encephalopathy, Early Infantile, 38 Epileptic Encephalopathy, Early Infantile, 40
Epileptic Encephalopathy, Early Infantile, 41 Epileptic Encephalopathy, Early Infantile, 42
Epileptic Encephalopathy, Early Infantile, 43 Epileptic Encephalopathy, Early Infantile, 44
Epileptic Encephalopathy, Early Infantile, 45 Epileptic Encephalopathy, Early Infantile, 46
Epileptic Encephalopathy, Early Infantile, 47 Epileptic Encephalopathy, Early Infantile, 48
Epileptic Encephalopathy, Early Infantile, 49 Epileptic Encephalopathy, Early Infantile, 51
Epileptic Encephalopathy, Early Infantile, 52 Epileptic Encephalopathy, Early Infantile, 53
Epileptic Encephalopathy, Early Infantile, 54 Epileptic Encephalopathy, Early Infantile, 55
Epileptic Encephalopathy, Early Infantile, 56 Epileptic Encephalopathy, Early Infantile, 57
Epileptic Encephalopathy, Early Infantile, 58 Epileptic Encephalopathy, Early Infantile, 59
Epileptic Encephalopathy, Early Infantile, 60 Epileptic Encephalopathy, Early Infantile, 61
Epileptic Encephalopathy, Early Infantile, 62 Epileptic Encephalopathy, Early Infantile, 63
Epileptic Encephalopathy, Early Infantile, 64 Epileptic Encephalopathy, Early Infantile, 65
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 31

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
developmental regression
inability to walk
difficulty walking
epileptic encephalopathy
seizures, refractory
more
Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior (in some patients)

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
poor or absent visual fixation


Clinical features from OMIM:

616346

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 31:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 developmental regression 32 HP:0002376
4 self-injurious behavior 32 occasional (7.5%) HP:0100716
5 global developmental delay 32 occasional (7.5%) HP:0001263
6 absent speech 32 HP:0001344
7 inability to walk 32 HP:0002540
8 difficulty walking 32 HP:0002355
9 cerebral atrophy 32 occasional (7.5%) HP:0002059
10 generalized hypotonia 32 HP:0001290
11 epileptic encephalopathy 32 HP:0200134

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 31

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 31

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 31

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 31:

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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 31

Publications for Epileptic Encephalopathy, Early Infantile, 31

Variations for Epileptic Encephalopathy, Early Infantile, 31

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 31:

75
# 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

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 31:

6
(show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNM1 NM_001005336.2(DNM1): c.529G> C (p.Ala177Pro) single nucleotide variant Pathogenic rs587777860 GRCh37 Chromosome 9, 130981471: 130981471
2 DNM1 NM_001005336.2(DNM1): c.529G> C (p.Ala177Pro) single nucleotide variant Pathogenic rs587777860 GRCh38 Chromosome 9, 128219192: 128219192
3 DNM1 NM_001005336.2(DNM1): c.618G> C (p.Lys206Asn) single nucleotide variant Pathogenic rs587777861 GRCh38 Chromosome 9, 128220016: 128220016
4 DNM1 NM_001005336.2(DNM1): c.618G> C (p.Lys206Asn) single nucleotide variant Pathogenic rs587777861 GRCh37 Chromosome 9, 130982295: 130982295
5 DNM1 NM_001005336.2(DNM1): c.1076G> C (p.Gly359Ala) single nucleotide variant Pathogenic rs587777862 GRCh37 Chromosome 9, 130984823: 130984823
6 DNM1 NM_001005336.2(DNM1): c.1076G> C (p.Gly359Ala) single nucleotide variant Pathogenic rs587777862 GRCh38 Chromosome 9, 128222544: 128222544
7 DNM1 NM_001005336.2(DNM1): c.865A> T (p.Ile289Phe) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 128222212: 128222212
8 DNM1 NM_001005336.2(DNM1): c.865A> T (p.Ile289Phe) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 130984491: 130984491
9 DNM1 NM_001288739.1(DNM1): c.139G> A (p.Val47Met) single nucleotide variant Pathogenic/Likely pathogenic rs869312702 GRCh37 Chromosome 9, 130965888: 130965888
10 DNM1 NM_001288739.1(DNM1): c.139G> A (p.Val47Met) single nucleotide variant Pathogenic/Likely pathogenic rs869312702 GRCh38 Chromosome 9, 128203609: 128203609
11 DNM1 NM_004408.3(DNM1): c.709C> T (p.Arg237Trp) single nucleotide variant Pathogenic rs760270633 GRCh37 Chromosome 9, 130982480: 130982480
12 DNM1 NM_004408.3(DNM1): c.709C> T (p.Arg237Trp) single nucleotide variant Pathogenic rs760270633 GRCh38 Chromosome 9, 128220201: 128220201
13 DNM1 NM_001005336.2(DNM1): c.465_467dupGAT (p.Gln155_Ile156insMet) duplication Likely pathogenic rs1057518655 GRCh38 Chromosome 9, 128219128: 128219130
14 DNM1 NM_001005336.2(DNM1): c.465_467dupGAT (p.Gln155_Ile156insMet) duplication Likely pathogenic rs1057518655 GRCh37 Chromosome 9, 130981407: 130981409
15 DNM1 NM_004408.3(DNM1): c.2540C> T (p.Ser847Leu) single nucleotide variant Benign/Likely benign rs199498658 GRCh37 Chromosome 9, 131016938: 131016938
16 DNM1 NM_004408.3(DNM1): c.2540C> T (p.Ser847Leu) single nucleotide variant Benign/Likely benign rs199498658 GRCh38 Chromosome 9, 128254659: 128254659
17 DNM1 NM_004408.3(DNM1): c.46C> A (p.Leu16Met) single nucleotide variant Benign rs61757224 GRCh37 Chromosome 9, 130965795: 130965795
18 DNM1 NM_004408.3(DNM1): c.46C> A (p.Leu16Met) single nucleotide variant Benign rs61757224 GRCh38 Chromosome 9, 128203516: 128203516
19 DNM1 NM_004408.3(DNM1): c.332C> G (p.Thr111Ser) single nucleotide variant Benign rs192913494 GRCh37 Chromosome 9, 130980957: 130980957
20 DNM1 NM_004408.3(DNM1): c.332C> G (p.Thr111Ser) single nucleotide variant Benign rs192913494 GRCh38 Chromosome 9, 128218678: 128218678
21 DNM1 NM_004408.3(DNM1): c.357T> C (p.Pro119=) single nucleotide variant Benign rs77325628 GRCh37 Chromosome 9, 130980982: 130980982
22 DNM1 NM_004408.3(DNM1): c.357T> C (p.Pro119=) single nucleotide variant Benign rs77325628 GRCh38 Chromosome 9, 128218703: 128218703
23 DNM1 NM_004408.3(DNM1): c.450C> G (p.Pro150=) single nucleotide variant Benign/Likely benign rs143834670 GRCh37 Chromosome 9, 130981392: 130981392
24 DNM1 NM_004408.3(DNM1): c.450C> G (p.Pro150=) single nucleotide variant Benign/Likely benign rs143834670 GRCh38 Chromosome 9, 128219113: 128219113
25 DNM1 NM_004408.3(DNM1): c.1197-7C> T single nucleotide variant Benign/Likely benign rs41306488 GRCh37 Chromosome 9, 130986523: 130986523
26 DNM1 NM_004408.3(DNM1): c.1197-7C> T single nucleotide variant Benign/Likely benign rs41306488 GRCh38 Chromosome 9, 128224244: 128224244
27 DNM1 NM_004408.3(DNM1): c.1200G> A (p.Thr400=) single nucleotide variant Likely benign rs373198034 GRCh38 Chromosome 9, 128224254: 128224254
28 DNM1 NM_004408.3(DNM1): c.1200G> A (p.Thr400=) single nucleotide variant Likely benign rs373198034 GRCh37 Chromosome 9, 130986533: 130986533
29 DNM1 NM_004408.3(DNM1): c.117C> T (p.Gly39=) single nucleotide variant Likely benign rs142432944 GRCh37 Chromosome 9, 130965866: 130965866
30 DNM1 NM_004408.3(DNM1): c.117C> T (p.Gly39=) single nucleotide variant Likely benign rs142432944 GRCh38 Chromosome 9, 128203587: 128203587
31 DNM1 NM_004408.3(DNM1): c.1422+7C> A single nucleotide variant Likely benign rs761674210 GRCh37 Chromosome 9, 130996393: 130996393
32 DNM1 NM_004408.3(DNM1): c.1422+7C> A single nucleotide variant Likely benign rs761674210 GRCh38 Chromosome 9, 128234114: 128234114
33 DNM1 NM_004408.3(DNM1): c.1764C> T (p.Leu588=) single nucleotide variant Benign rs111534551 GRCh37 Chromosome 9, 131008765: 131008765
34 DNM1 NM_004408.3(DNM1): c.1764C> T (p.Leu588=) single nucleotide variant Benign rs111534551 GRCh38 Chromosome 9, 128246486: 128246486
35 DNM1 NM_004408.3(DNM1): c.1707C> T (p.Asn569=) single nucleotide variant Likely benign rs145318071 GRCh37 Chromosome 9, 131008708: 131008708
36 DNM1 NM_004408.3(DNM1): c.1707C> T (p.Asn569=) single nucleotide variant Likely benign rs145318071 GRCh38 Chromosome 9, 128246429: 128246429
37 DNM1 NM_004408.3(DNM1): c.44G> A (p.Arg15Gln) single nucleotide variant Likely benign rs763288862 GRCh37 Chromosome 9, 130965793: 130965793
38 DNM1 NM_004408.3(DNM1): c.44G> A (p.Arg15Gln) single nucleotide variant Likely benign rs763288862 GRCh38 Chromosome 9, 128203514: 128203514
39 DNM1 NM_004408.3(DNM1): c.1261C> T (p.Arg421Ter) single nucleotide variant Uncertain significance rs200535620 GRCh37 Chromosome 9, 130986594: 130986594
40 DNM1 NM_004408.3(DNM1): c.1261C> T (p.Arg421Ter) single nucleotide variant Uncertain significance rs200535620 GRCh38 Chromosome 9, 128224315: 128224315
41 DNM1 NM_004408.3(DNM1): c.1358G> A (p.Arg453Gln) single nucleotide variant Uncertain significance rs750296552 GRCh37 Chromosome 9, 130996322: 130996322
42 DNM1 NM_004408.3(DNM1): c.1358G> A (p.Arg453Gln) single nucleotide variant Uncertain significance rs750296552 GRCh38 Chromosome 9, 128234043: 128234043
43 DNM1 NM_004408.3(DNM1): c.1772C> T (p.Thr591Met) single nucleotide variant Conflicting interpretations of pathogenicity rs772239774 GRCh37 Chromosome 9, 131008773: 131008773
44 DNM1 NM_004408.3(DNM1): c.1772C> T (p.Thr591Met) single nucleotide variant Conflicting interpretations of pathogenicity rs772239774 GRCh38 Chromosome 9, 128246494: 128246494
45 DNM1 NM_004408.3(DNM1): c.2541G> A (p.Ser847=) single nucleotide variant Benign rs545142847 GRCh38 Chromosome 9, 128254660: 128254660
46 DNM1 NM_004408.3(DNM1): c.2541G> A (p.Ser847=) single nucleotide variant Benign rs545142847 GRCh37 Chromosome 9, 131016939: 131016939
47 DNM1 NM_004408.3(DNM1): c.624C> T (p.Asp208=) single nucleotide variant Likely benign GRCh37 Chromosome 9, 130982301: 130982301
48 DNM1 NM_004408.3(DNM1): c.624C> T (p.Asp208=) single nucleotide variant Likely benign GRCh38 Chromosome 9, 128220022: 128220022
49 DNM1 NM_004408.3(DNM1): c.797G> A (p.Arg266His) single nucleotide variant Likely benign rs200136679 GRCh37 Chromosome 9, 130982568: 130982568
50 DNM1 NM_004408.3(DNM1): c.797G> A (p.Arg266His) single nucleotide variant Likely benign rs200136679 GRCh38 Chromosome 9, 128220289: 128220289

Expression for Epileptic Encephalopathy, Early Infantile, 31

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 31.

Pathways for Epileptic Encephalopathy, Early Infantile, 31

GO Terms for Epileptic Encephalopathy, Early Infantile, 31

Sources for Epileptic Encephalopathy, Early Infantile, 31

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....