EIEE31
MCID: EPL151
MIFTS: 25

Epileptic Encephalopathy, Early Infantile, 31 (EIEE31)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 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). Affiliated tissues include liver and eye, and 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
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy 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 12)
# 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 generalized hypotonia 32 HP:0001290
10 cerebral atrophy 32 occasional (7.5%) HP:0002059
11 hypsarrhythmia 32 HP:0002521
12 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

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

41
Liver, Eye

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 126)
# 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 GRCh37 Chromosome 9, 130984491: 130984491
8 DNM1 NM_001005336.2(DNM1): c.865A> T (p.Ile289Phe) single nucleotide variant Pathogenic 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 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.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

Sources for Epileptic Encephalopathy, Early Infantile, 31

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