EIEE37
MCID: EPL189
MIFTS: 25

Epileptic Encephalopathy, Early Infantile, 37 (EIEE37)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 37

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 37:

Name: Epileptic Encephalopathy, Early Infantile, 37 57 74 29 6
Eiee37 57 74
Encephalopathy, Epileptic, Early Infantile, Type 37 40
Early Infantile Epileptic Encephalopathy 37 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first 2 years of life
patients may present with either seizures or choreoathetosis


HPO:

32
epileptic encephalopathy, early infantile, 37:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080435
MeSH 44 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 37

OMIM : 57 Early infantile epileptic encephalopathy-37 is an autosomal recessive severe epileptic-dyskinetic disorder characterized by onset of intractable seizures or abnormal movements in the first years of life. Affected individuals show global developmental delay and/or developmental regression after onset of seizures. Patients also show a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. The individuals are severely affected, with mental retardation, absent speech, and impaired volitional movements (summary by Madeo et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (616981)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 37, is also known as eiee37. An important gene associated with Epileptic Encephalopathy, Early Infantile, 37 is FRRS1L (Ferric Chelate Reductase 1 Like). Related phenotypes are nystagmus and intellectual disability

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has material basis in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31.

UniProtKB/Swiss-Prot : 74 Epileptic encephalopathy, early infantile, 37: 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. EIEE37 is an autosomal recessive, severe form manifesting in the first years of life. Affected individuals show hyperkinetic movement disorder with choreoathetosis, spasticity, rigidity, mental retardation, absent speech, and impaired volitional movements.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 37

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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 37

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 37:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 spasticity 32 HP:0001257
5 gait disturbance 32 HP:0001288
6 developmental regression 32 HP:0002376
7 global developmental delay 32 HP:0001263
8 generalized hypotonia 32 HP:0001290
9 myoclonus 32 HP:0001336
10 absent speech 32 HP:0001344
11 rigidity 32 HP:0002063
12 epileptic encephalopathy 32 HP:0200134
13 choreoathetosis 32 HP:0001266
14 cerebellar atrophy 32 HP:0001272
15 cerebral atrophy 32 HP:0002059

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
developmental regression
global developmental delay
myoclonus
absent speech
more
Head And Neck Eyes:
nystagmus (in some patients)

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

616981

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 37

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 37

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 37

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 37:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 37 29 FRRS1L

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 37

Publications for Epileptic Encephalopathy, Early Infantile, 37

Articles related to Epileptic Encephalopathy, Early Infantile, 37:

# Title Authors PMID Year
1
Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L. 8 71
27239025 2016
2
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 8 71
27236917 2016
3
Coexistence of epileptic encephalopathy with continuous spike-and-wave during sleep, atypical benign partial epilepsy, and fixation-off sensitivity in two siblings. 8 71
21147040 2011
4
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
5
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 37

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 37:

6 (show top 50) (show all 63)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FRRS1L NM_014334.3(FRRS1L): c.298del (p.Asp100fs) deletion Pathogenic rs933379958 9:111929274-111929274 9:109166994-109166994
2 FRRS1L NM_014334.3(FRRS1L): c.874C> T (p.Arg292Ter) single nucleotide variant Pathogenic rs1054228594 9:111899896-111899896 9:109137616-109137616
3 FRRS1L NM_014334.3(FRRS1L): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 9:111899809-111899809 9:109137529-109137529
4 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 9:111903640-111903640 9:109141360-109141360
5 FRRS1L NM_014334.3(FRRS1L): c.436dup (p.Ile146fs) duplication Pathogenic rs878853283 9:111911956-111911956 9:109149676-109149676
6 FRRS1L NM_014334.3(FRRS1L): c.639C> A (p.Cys213Ter) single nucleotide variant Pathogenic 9:111903846-111903846 9:109141566-109141566
7 FRRS1L NM_014334.3(FRRS1L): c.451_452TG[1] (p.Cys151fs) short repeat Pathogenic 9:111911938-111911939 9:109149658-109149659
8 FRRS1L NM_014334.3(FRRS1L): c.670C> T (p.Gln224Ter) single nucleotide variant Pathogenic 9:111903815-111903815 9:109141535-109141535
9 FRRS1L NM_014334.3(FRRS1L): c.737_739del (p.Gly246del) deletion Pathogenic/Likely pathogenic rs878853282 9:111903746-111903748 9:109141466-109141468
10 FRRS1L NM_014334.3(FRRS1L): c.616-2A> G single nucleotide variant Likely pathogenic 9:111903871-111903871 9:109141591-109141591
11 FRRS1L NM_014334.3(FRRS1L): c.541G> A (p.Ala181Thr) single nucleotide variant Uncertain significance 9:111909405-111909405 9:109147125-109147125
12 FRRS1L NM_014334.3(FRRS1L): c.461C> T (p.Thr154Ile) single nucleotide variant Uncertain significance 9:111911931-111911931 9:109149651-109149651
13 FRRS1L NM_014334.3(FRRS1L): c.293G> T (p.Arg98Leu) single nucleotide variant Uncertain significance 9:111929279-111929279 9:109166999-109166999
14 FRRS1L NM_014334.3(FRRS1L): c.290C> T (p.Ala97Val) single nucleotide variant Uncertain significance 9:111929282-111929282 9:109167002-109167002
15 FRRS1L NM_014334.3(FRRS1L): c.947C> T (p.Pro316Leu) single nucleotide variant Uncertain significance 9:111899823-111899823 9:109137543-109137543
16 FRRS1L NM_014334.3(FRRS1L): c.937A> G (p.Ile313Val) single nucleotide variant Uncertain significance 9:111899833-111899833 9:109137553-109137553
17 FRRS1L NM_014334.3(FRRS1L): c.910G> A (p.Val304Ile) single nucleotide variant Uncertain significance 9:111899860-111899860 9:109137580-109137580
18 FRRS1L NM_014334.3(FRRS1L): c.893C> T (p.Pro298Leu) single nucleotide variant Uncertain significance 9:111899877-111899877 9:109137597-109137597
19 FRRS1L NM_014334.3(FRRS1L): c.861G> A (p.Gln287=) single nucleotide variant Uncertain significance 9:111903624-111903624 9:109141344-109141344
20 FRRS1L NM_014334.3(FRRS1L): c.752A> G (p.Asn251Ser) single nucleotide variant Uncertain significance 9:111903733-111903733 9:109141453-109141453
21 FRRS1L NM_014334.3(FRRS1L): c.607A> C (p.Lys203Gln) single nucleotide variant Uncertain significance 9:111909339-111909339 9:109147059-109147059
22 FRRS1L NM_014334.3(FRRS1L): c.590T> A (p.Val197Asp) single nucleotide variant Uncertain significance 9:111909356-111909356 9:109147076-109147076
23 FRRS1L NM_014334.3(FRRS1L): c.448G> A (p.Asp150Asn) single nucleotide variant Uncertain significance 9:111911944-111911944 9:109149664-109149664
24 FRRS1L NM_014334.3(FRRS1L): c.317C> A (p.Ala106Glu) single nucleotide variant Uncertain significance 9:111929255-111929255 9:109166975-109166975
25 FRRS1L NM_014334.3(FRRS1L): c.284G> T (p.Gly95Val) single nucleotide variant Uncertain significance 9:111929288-111929288 9:109167008-109167008
26 FRRS1L NM_014334.3(FRRS1L): c.199C> T (p.Leu67Phe) single nucleotide variant Uncertain significance 9:111929373-111929373 9:109167093-109167093
27 FRRS1L NM_014334.3(FRRS1L): c.89C> T (p.Pro30Leu) single nucleotide variant Uncertain significance 9:111929483-111929483 9:109167203-109167203
28 FRRS1L NM_014334.3(FRRS1L): c.59G> T (p.Arg20Leu) single nucleotide variant Uncertain significance 9:111929513-111929513 9:109167233-109167233
29 FRRS1L NM_014334.3(FRRS1L): c.2T> A (p.Met1Lys) single nucleotide variant Uncertain significance 9:111929570-111929570 9:109167290-109167290
30 FRRS1L NM_014334.3(FRRS1L): c.497A> G (p.Asn166Ser) single nucleotide variant Uncertain significance rs1001609848 9:111909449-111909449 9:109147169-109147169
31 FRRS1L NM_014334.3(FRRS1L): c.709C> G (p.Gln237Glu) single nucleotide variant Uncertain significance rs894314771 9:111903776-111903776 9:109141496-109141496
32 FRRS1L NM_014334.3(FRRS1L): c.401T> C (p.Phe134Ser) single nucleotide variant Uncertain significance rs1554733324 9:111911991-111911991 9:109149711-109149711
33 FRRS1L NM_014334.3(FRRS1L): c.262C> T (p.Pro88Ser) single nucleotide variant Uncertain significance rs1361706547 9:111929310-111929310 9:109167030-109167030
34 FRRS1L NM_014334.3(FRRS1L): c.206T> G (p.Leu69Arg) single nucleotide variant Uncertain significance rs1477068520 9:111929366-111929366 9:109167086-109167086
35 FRRS1L NM_014334.3(FRRS1L): c.32C> G (p.Ala11Gly) single nucleotide variant Uncertain significance rs560644274 9:111929540-111929540 9:109167260-109167260
36 FRRS1L NM_014334.3(FRRS1L): c.116C> T (p.Ala39Val) single nucleotide variant Uncertain significance rs1554736531 9:111929456-111929456 9:109167176-109167176
37 FRRS1L NM_014334.3(FRRS1L): c.98_111delinsGG (p.Ala33_Pro37delinsGly) indel Uncertain significance 9:111929461-111929474 9:109167181-109167194
38 FRRS1L NM_014334.3(FRRS1L): c.73G> A (p.Gly25Ser) single nucleotide variant Uncertain significance 9:111929499-111929499 9:109167219-109167219
39 FRRS1L NM_014334.3(FRRS1L): c.927G> C (p.Lys309Asn) single nucleotide variant Uncertain significance 9:111899843-111899843 9:109137563-109137563
40 FRRS1L NM_014334.3(FRRS1L): c.757G> A (p.Val253Ile) single nucleotide variant Uncertain significance 9:111903728-111903728 9:109141448-109141448
41 FRRS1L NM_014334.3(FRRS1L): c.363C> A (p.Phe121Leu) single nucleotide variant Uncertain significance 9:111929209-111929209 9:109166929-109166929
42 FRRS1L NM_014334.3(FRRS1L): c.331G> C (p.Asp111His) single nucleotide variant Uncertain significance 9:111929241-111929241 9:109166961-109166961
43 FRRS1L NM_014334.3(FRRS1L): c.330C> G (p.His110Gln) single nucleotide variant Uncertain significance 9:111929242-111929242 9:109166962-109166962
44 FRRS1L NM_014334.3(FRRS1L): c.67G> A (p.Gly23Ser) single nucleotide variant Uncertain significance 9:111929505-111929505 9:109167225-109167225
45 FRRS1L NM_014334.3(FRRS1L): c.755G> A (p.Arg252His) single nucleotide variant Uncertain significance 9:111903730-111903730 9:109141450-109141450
46 FRRS1L NM_014334.3(FRRS1L): c.861G> T (p.Gln287His) single nucleotide variant Uncertain significance rs1381027576 9:111903624-111903624 9:109141344-109141344
47 FRRS1L NM_014334.3(FRRS1L): c.686T> C (p.Val229Ala) single nucleotide variant Uncertain significance rs148986846 9:111903799-111903799 9:109141519-109141519
48 FRRS1L NM_014334.3(FRRS1L): c.640G> A (p.Val214Ile) single nucleotide variant Uncertain significance rs374214528 9:111903845-111903845 9:109141565-109141565
49 FRRS1L NM_014334.3(FRRS1L): c.548T> C (p.Val183Ala) single nucleotide variant Uncertain significance rs149005559 9:111909398-111909398 9:109147118-109147118
50 FRRS1L NM_014334.3(FRRS1L): c.742T> G (p.Phe248Val) single nucleotide variant Uncertain significance rs145737336 9:111903743-111903743 9:109141463-109141463

Expression for Epileptic Encephalopathy, Early Infantile, 37

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 37.

Pathways for Epileptic Encephalopathy, Early Infantile, 37

GO Terms for Epileptic Encephalopathy, Early Infantile, 37

Sources for Epileptic Encephalopathy, Early Infantile, 37

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....