EIEE31
MCID: EPL151
MIFTS: 27

Epileptic Encephalopathy, Early Infantile, 31 (EIEE31)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 31

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

Name: Epileptic Encephalopathy, Early Infantile, 31 58 76 30 6
Eiee31 58 76
Encephalopathy, Epileptic, Early Infantile, Type 31 41
Early Infantile Epileptic Encephalopathy 31 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epileptic encephalopathy, early infantile, 31:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 31

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include liver and eye, and related phenotypes are self-injurious behavior and global developmental delay

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the DNM1 gene on chromosome 9q34.

Description from OMIM: 616346

Related Diseases for Epileptic Encephalopathy, Early Infantile, 31

Diseases in the Early 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, 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 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 31

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

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 self-injurious behavior 33 occasional (7.5%) HP:0100716
2 global developmental delay 33 occasional (7.5%) HP:0001263
3 cerebral atrophy 33 occasional (7.5%) HP:0002059
4 intellectual disability 33 HP:0001249
5 seizures 33 HP:0001250
6 developmental regression 33 HP:0002376
7 absent speech 33 HP:0001344
8 inability to walk 33 HP:0002540
9 epileptic encephalopathy 33 HP:0200134
10 hypsarrhythmia 33 HP:0002521
11 difficulty walking 33 HP:0002355
12 generalized hypotonia 33 HP:0001290

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
developmental regression
inability to walk
epileptic encephalopathy
difficulty walking
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

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 30 DNM1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 31

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 31:

42
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 31

Articles related to Epileptic Encephalopathy, Early Infantile, 31:

# Title Authors Year
1
Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis. ( 27066543 )
2015
2
Large-scale discovery of novel genetic causes of developmental disorders. ( 25533962 )
2015
3
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. ( 25262651 )
2014

Variations for Epileptic Encephalopathy, Early Infantile, 31

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

76
# 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 130)
# 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 rs1554774401 GRCh37 Chromosome 9, 130984491: 130984491
8 DNM1 NM_001005336.2(DNM1): c.865A> T (p.Ile289Phe) single nucleotide variant Pathogenic rs1554774401 GRCh38 Chromosome 9, 128222212: 128222212
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 GRCh38 Chromosome 9, 128220201: 128220201
12 DNM1 NM_004408.3(DNM1): c.709C> T (p.Arg237Trp) single nucleotide variant Pathogenic rs760270633 GRCh37 Chromosome 9, 130982480: 130982480
13 DNM1 NM_001005336.2(DNM1): c.465_467dup (p.Gln155_Ile156insMet) duplication Likely pathogenic rs1057518655 GRCh38 Chromosome 9, 128219128: 128219130
14 DNM1 NM_001005336.2(DNM1): c.465_467dup (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 GRCh38 Chromosome 9, 128203516: 128203516
18 DNM1 NM_004408.3(DNM1): c.46C> A (p.Leu16Met) single nucleotide variant Benign rs61757224 GRCh37 Chromosome 9, 130965795: 130965795
19 DNM1 NM_004408.3(DNM1): c.2420C> G (p.Ser807Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs935756107 GRCh37 Chromosome 9, 131013105: 131013105
20 DNM1 NM_004408.3(DNM1): c.2420C> G (p.Ser807Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs935756107 GRCh38 Chromosome 9, 128250826: 128250826
21 DNM1 NM_004408.3(DNM1): c.332C> G (p.Thr111Ser) single nucleotide variant Benign rs192913494 GRCh37 Chromosome 9, 130980957: 130980957
22 DNM1 NM_004408.3(DNM1): c.332C> G (p.Thr111Ser) single nucleotide variant Benign rs192913494 GRCh38 Chromosome 9, 128218678: 128218678
23 DNM1 NM_004408.3(DNM1): c.357T> C (p.Pro119=) single nucleotide variant Benign rs77325628 GRCh37 Chromosome 9, 130980982: 130980982
24 DNM1 NM_004408.3(DNM1): c.357T> C (p.Pro119=) single nucleotide variant Benign rs77325628 GRCh38 Chromosome 9, 128218703: 128218703
25 DNM1 NM_004408.3(DNM1): c.450C> G (p.Pro150=) single nucleotide variant Benign/Likely benign rs143834670 GRCh37 Chromosome 9, 130981392: 130981392
26 DNM1 NM_004408.3(DNM1): c.450C> G (p.Pro150=) single nucleotide variant Benign/Likely benign rs143834670 GRCh38 Chromosome 9, 128219113: 128219113
27 DNM1 NM_004408.3(DNM1): c.849+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs527412689 GRCh37 Chromosome 9, 130982626: 130982626
28 DNM1 NM_004408.3(DNM1): c.849+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs527412689 GRCh38 Chromosome 9, 128220347: 128220347
29 DNM1 NM_004408.3(DNM1): c.1197-7C> T single nucleotide variant Benign/Likely benign rs41306488 GRCh37 Chromosome 9, 130986523: 130986523
30 DNM1 NM_004408.3(DNM1): c.1197-7C> T single nucleotide variant Benign/Likely benign rs41306488 GRCh38 Chromosome 9, 128224244: 128224244
31 DNM1 NM_004408.3(DNM1): c.1200G> A (p.Thr400=) single nucleotide variant Likely benign rs373198034 GRCh37 Chromosome 9, 130986533: 130986533
32 DNM1 NM_004408.3(DNM1): c.1200G> A (p.Thr400=) single nucleotide variant Likely benign rs373198034 GRCh38 Chromosome 9, 128224254: 128224254
33 DNM1 NM_004408.3(DNM1): c.117C> T (p.Gly39=) single nucleotide variant Likely benign rs142432944 GRCh37 Chromosome 9, 130965866: 130965866
34 DNM1 NM_004408.3(DNM1): c.117C> T (p.Gly39=) single nucleotide variant Likely benign rs142432944 GRCh38 Chromosome 9, 128203587: 128203587
35 DNM1 NM_004408.3(DNM1): c.1422+7C> A single nucleotide variant Likely benign rs761674210 GRCh37 Chromosome 9, 130996393: 130996393
36 DNM1 NM_004408.3(DNM1): c.1422+7C> A single nucleotide variant Likely benign rs761674210 GRCh38 Chromosome 9, 128234114: 128234114
37 DNM1 NM_004408.3(DNM1): c.1558-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs546517702 GRCh37 Chromosome 9, 131004508: 131004508
38 DNM1 NM_004408.3(DNM1): c.1558-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs546517702 GRCh38 Chromosome 9, 128242229: 128242229
39 DNM1 NM_004408.3(DNM1): c.1764C> T (p.Leu588=) single nucleotide variant Benign rs111534551 GRCh37 Chromosome 9, 131008765: 131008765
40 DNM1 NM_004408.3(DNM1): c.1764C> T (p.Leu588=) single nucleotide variant Benign rs111534551 GRCh38 Chromosome 9, 128246486: 128246486
41 DNM1 NM_004408.3(DNM1): c.1707C> T (p.Asn569=) single nucleotide variant Likely benign rs145318071 GRCh37 Chromosome 9, 131008708: 131008708
42 DNM1 NM_004408.3(DNM1): c.1707C> T (p.Asn569=) single nucleotide variant Likely benign rs145318071 GRCh38 Chromosome 9, 128246429: 128246429
43 DNM1 NM_004408.3(DNM1): c.44G> A (p.Arg15Gln) single nucleotide variant Likely benign rs763288862 GRCh37 Chromosome 9, 130965793: 130965793
44 DNM1 NM_004408.3(DNM1): c.44G> A (p.Arg15Gln) single nucleotide variant Likely benign rs763288862 GRCh38 Chromosome 9, 128203514: 128203514
45 DNM1 NM_004408.3(DNM1): c.1261C> T (p.Arg421Ter) single nucleotide variant Uncertain significance rs200535620 GRCh37 Chromosome 9, 130986594: 130986594
46 DNM1 NM_004408.3(DNM1): c.1261C> T (p.Arg421Ter) single nucleotide variant Uncertain significance rs200535620 GRCh38 Chromosome 9, 128224315: 128224315
47 DNM1 NM_004408.3(DNM1): c.1358G> A (p.Arg453Gln) single nucleotide variant Uncertain significance rs750296552 GRCh37 Chromosome 9, 130996322: 130996322
48 DNM1 NM_004408.3(DNM1): c.1358G> A (p.Arg453Gln) single nucleotide variant Uncertain significance rs750296552 GRCh38 Chromosome 9, 128234043: 128234043
49 DNM1 NM_004408.3(DNM1): c.1772C> T (p.Thr591Met) single nucleotide variant Conflicting interpretations of pathogenicity rs772239774 GRCh37 Chromosome 9, 131008773: 131008773
50 DNM1 NM_004408.3(DNM1): c.1772C> T (p.Thr591Met) single nucleotide variant Conflicting interpretations of pathogenicity rs772239774 GRCh38 Chromosome 9, 128246494: 128246494

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

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