MCID: EPL182
MIFTS: 21

Epileptic Encephalopathy, Early Infantile, 54

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, 54

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 54:

Name: Epileptic Encephalopathy, Early Infantile, 54 57 75 29 6
Eiee54 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
seizures are refractory to treatment
febrile seizures may occur in infancy, followed by afebrile seizures later


HPO:

32
epileptic encephalopathy, early infantile, 54:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 54

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, early infantile, 54: 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, 54, is also known as eiee54. An important gene associated with Epileptic Encephalopathy, Early Infantile, 54 is HNRNPU (Heterogeneous Nuclear Ribonucleoprotein U). Related phenotypes are microcephaly and intellectual disability

OMIM : 57 Early infantile epileptic encephalopathy-54 is a severe neurodevelopmental disorder characterized by delayed psychomotor development, early-onset refractory seizures that are often initially febrile but later afebrile, and severe intellectual disability (summary by de Kovel et al., 2016). (617391)

Related Diseases for Epileptic Encephalopathy, Early Infantile, 54

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, 54

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
epileptic encephalopathy
delayed myelination
enlarged ventricles
mental retardation
more
Neurologic Behavioral Psychiatric Manifestations:
autistic features

Head And Neck Face:
dysmorphic features, nonspecific (in some patients)

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
small head circumference


Clinical features from OMIM:

617391

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 54:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 global developmental delay 32 HP:0001263
5 generalized hypotonia 32 HP:0001290
6 ventriculomegaly 32 HP:0002119
7 eeg abnormality 32 HP:0002353
8 delayed myelination 32 HP:0012448
9 epileptic encephalopathy 32 HP:0200134

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 54

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 54

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 54

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 54:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 54 29 HNRNPU

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 54

Publications for Epileptic Encephalopathy, Early Infantile, 54

Variations for Epileptic Encephalopathy, Early Infantile, 54

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 54:

6
(show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 HNRNPU NM_031844.2(HNRNPU): c.67C> T (p.Arg23Ter) single nucleotide variant Likely pathogenic rs869312701 GRCh37 Chromosome 1, 245027543: 245027543
2 HNRNPU NM_031844.2(HNRNPU): c.67C> T (p.Arg23Ter) single nucleotide variant Likely pathogenic rs869312701 GRCh38 Chromosome 1, 244864241: 244864241
3 HNRNPU NM_031844.2(HNRNPU): c.2471_2472delATinsGA (p.Tyr824Ter) indel Pathogenic rs1057524914 GRCh37 Chromosome 1, 245017758: 245017759
4 HNRNPU NM_031844.2(HNRNPU): c.2471_2472delATinsGA (p.Tyr824Ter) indel Pathogenic rs1057524914 GRCh38 Chromosome 1, 244854456: 244854457
5 HNRNPU NM_031844.2(HNRNPU): c.511C> T (p.Gln171Ter) single nucleotide variant Pathogenic rs1057524915 GRCh38 Chromosome 1, 244863797: 244863797
6 HNRNPU NM_031844.2(HNRNPU): c.511C> T (p.Gln171Ter) single nucleotide variant Pathogenic rs1057524915 GRCh37 Chromosome 1, 245027099: 245027099
7 HNRNPU NM_031844.2(HNRNPU): c.1810_1811insT (p.Val605Cysfs) insertion Pathogenic rs1057524916 GRCh37 Chromosome 1, 245019860: 245019860
8 HNRNPU NM_031844.2(HNRNPU): c.1810_1811insT (p.Val605Cysfs) insertion Pathogenic rs1057524916 GRCh38 Chromosome 1, 244856558: 244856558
9 HNRNPU NM_031844.2(HNRNPU): c.1329A> G (p.Pro443=) single nucleotide variant Likely benign rs777795507 GRCh37 Chromosome 1, 245021478: 245021478
10 HNRNPU NM_031844.2(HNRNPU): c.1329A> G (p.Pro443=) single nucleotide variant Likely benign rs777795507 GRCh38 Chromosome 1, 244858176: 244858176
11 HNRNPU NM_031844.2(HNRNPU): c.1288G> A (p.Val430Ile) single nucleotide variant Uncertain significance rs772732188 GRCh37 Chromosome 1, 245021519: 245021519
12 HNRNPU NM_031844.2(HNRNPU): c.1288G> A (p.Val430Ile) single nucleotide variant Uncertain significance rs772732188 GRCh38 Chromosome 1, 244858217: 244858217
13 HNRNPU NM_031844.2(HNRNPU): c.2193T> C (p.Asn731=) single nucleotide variant Likely benign rs372228779 GRCh37 Chromosome 1, 245018885: 245018885
14 HNRNPU NM_031844.2(HNRNPU): c.2193T> C (p.Asn731=) single nucleotide variant Likely benign rs372228779 GRCh38 Chromosome 1, 244855583: 244855583
15 HNRNPU NM_031844.2(HNRNPU): c.1272T> C (p.Asn424=) single nucleotide variant Likely benign rs768082015 GRCh37 Chromosome 1, 245021535: 245021535
16 HNRNPU NM_031844.2(HNRNPU): c.1272T> C (p.Asn424=) single nucleotide variant Likely benign rs768082015 GRCh38 Chromosome 1, 244858233: 244858233
17 HNRNPU NM_031844.2(HNRNPU): c.2247C> T (p.Ile749=) single nucleotide variant Likely benign rs1060504188 GRCh37 Chromosome 1, 245018831: 245018831
18 HNRNPU NM_031844.2(HNRNPU): c.2247C> T (p.Ile749=) single nucleotide variant Likely benign rs1060504188 GRCh38 Chromosome 1, 244855529: 244855529
19 HNRNPU NM_031844.2(HNRNPU): c.1460G> C (p.Gly487Ala) single nucleotide variant Uncertain significance rs199740131 GRCh37 Chromosome 1, 245021347: 245021347
20 HNRNPU NM_031844.2(HNRNPU): c.1460G> C (p.Gly487Ala) single nucleotide variant Uncertain significance rs199740131 GRCh38 Chromosome 1, 244858045: 244858045
21 HNRNPU NM_031844.2(HNRNPU): c.981T> C (p.Tyr327=) single nucleotide variant Likely benign rs1060504189 GRCh37 Chromosome 1, 245023673: 245023673
22 HNRNPU NM_031844.2(HNRNPU): c.981T> C (p.Tyr327=) single nucleotide variant Likely benign rs1060504189 GRCh38 Chromosome 1, 244860371: 244860371
23 HNRNPU NM_031844.2(HNRNPU): c.1268A> G (p.Lys423Arg) single nucleotide variant Likely benign rs760669739 GRCh37 Chromosome 1, 245021539: 245021539
24 HNRNPU NM_031844.2(HNRNPU): c.1268A> G (p.Lys423Arg) single nucleotide variant Likely benign rs760669739 GRCh38 Chromosome 1, 244858237: 244858237
25 HNRNPU NM_031844.2(HNRNPU): c.16delGinsATT (p.Val6Ilefs) indel Pathogenic rs1135401794 GRCh38 Chromosome 1, 244864292: 244864292
26 HNRNPU NM_031844.2(HNRNPU): c.16delGinsATT (p.Val6Ilefs) indel Pathogenic rs1135401794 GRCh37 Chromosome 1, 245027594: 245027594
27 HNRNPU NM_031844.2(HNRNPU): c.2408A> G (p.Asn803Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 244854989: 244854989
28 HNRNPU NM_031844.2(HNRNPU): c.2408A> G (p.Asn803Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 245018291: 245018291
29 HNRNPU NM_031844.2(HNRNPU): c.2248G> A (p.Gly750Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 244855528: 244855528
30 HNRNPU NM_031844.2(HNRNPU): c.2248G> A (p.Gly750Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 245018830: 245018830
31 HNRNPU NM_031844.2(HNRNPU): c.1710T> C (p.Ala570=) single nucleotide variant Likely benign GRCh38 Chromosome 1, 244856761: 244856761
32 HNRNPU NM_031844.2(HNRNPU): c.1710T> C (p.Ala570=) single nucleotide variant Likely benign GRCh37 Chromosome 1, 245020063: 245020063
33 HNRNPU NM_031844.2(HNRNPU): c.1642G> A (p.Asp548Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 244856829: 244856829
34 HNRNPU NM_031844.2(HNRNPU): c.1642G> A (p.Asp548Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 245020131: 245020131
35 HNRNPU NM_031844.2(HNRNPU): c.1434C> T (p.Asn478=) single nucleotide variant Likely benign rs778730784 GRCh38 Chromosome 1, 244858071: 244858071
36 HNRNPU NM_031844.2(HNRNPU): c.1434C> T (p.Asn478=) single nucleotide variant Likely benign rs778730784 GRCh37 Chromosome 1, 245021373: 245021373
37 HNRNPU NM_031844.2(HNRNPU): c.1156A> G (p.Ile386Val) single nucleotide variant Uncertain significance rs745485838 GRCh38 Chromosome 1, 244858803: 244858803
38 HNRNPU NM_031844.2(HNRNPU): c.1156A> G (p.Ile386Val) single nucleotide variant Uncertain significance rs745485838 GRCh37 Chromosome 1, 245022105: 245022105
39 HNRNPU NM_031844.2(HNRNPU): c.1081A> G (p.Ile361Val) single nucleotide variant Uncertain significance rs200962317 GRCh38 Chromosome 1, 244859311: 244859311
40 HNRNPU NM_031844.2(HNRNPU): c.1081A> G (p.Ile361Val) single nucleotide variant Uncertain significance rs200962317 GRCh37 Chromosome 1, 245022613: 245022613
41 HNRNPU NM_031844.2(HNRNPU): c.621G> A (p.Gln207=) single nucleotide variant Likely benign rs759528610 GRCh38 Chromosome 1, 244863687: 244863687
42 HNRNPU NM_031844.2(HNRNPU): c.621G> A (p.Gln207=) single nucleotide variant Likely benign rs759528610 GRCh37 Chromosome 1, 245026989: 245026989
43 HNRNPU NM_031844.2(HNRNPU): c.567C> T (p.Gly189=) single nucleotide variant Likely benign rs756832741 GRCh38 Chromosome 1, 244863741: 244863741
44 HNRNPU NM_031844.2(HNRNPU): c.567C> T (p.Gly189=) single nucleotide variant Likely benign rs756832741 GRCh37 Chromosome 1, 245027043: 245027043
45 HNRNPU NM_031844.2(HNRNPU): c.507G> A (p.Gln169=) single nucleotide variant Benign rs139561508 GRCh38 Chromosome 1, 244863801: 244863801
46 HNRNPU NM_031844.2(HNRNPU): c.507G> A (p.Gln169=) single nucleotide variant Benign rs139561508 GRCh37 Chromosome 1, 245027103: 245027103
47 HNRNPU NM_031844.2(HNRNPU): c.481C> T (p.Gln161Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 244863827: 244863827
48 HNRNPU NM_031844.2(HNRNPU): c.481C> T (p.Gln161Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 245027129: 245027129
49 HNRNPU NM_031844.2(HNRNPU): c.429T> C (p.Asp143=) single nucleotide variant Benign rs555895621 GRCh38 Chromosome 1, 244863879: 244863879
50 HNRNPU NM_031844.2(HNRNPU): c.429T> C (p.Asp143=) single nucleotide variant Benign rs555895621 GRCh37 Chromosome 1, 245027181: 245027181

Expression for Epileptic Encephalopathy, Early Infantile, 54

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 54.

Pathways for Epileptic Encephalopathy, Early Infantile, 54

GO Terms for Epileptic Encephalopathy, Early Infantile, 54

Sources for Epileptic Encephalopathy, Early Infantile, 54

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