MCID: EPL189
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 37

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, 37

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

Name: Epileptic Encephalopathy, Early Infantile, 37 57 75 29 6
Eiee37 57 75
Encephalopathy, Epileptic, Early Infantile, Type 37 40

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:



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

UniProtKB/Swiss-Prot : 75 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 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, 37

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

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

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

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

Variations for Epileptic Encephalopathy, Early Infantile, 37

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

6
(show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 FRRS1L NM_014334.3(FRRS1L): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 GRCh37 Chromosome 9, 111899809: 111899809
2 FRRS1L NM_014334.3(FRRS1L): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 GRCh38 Chromosome 9, 109137529: 109137529
3 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 GRCh38 Chromosome 9, 109141360: 109141360
4 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 GRCh37 Chromosome 9, 111903640: 111903640
5 FRRS1L NM_014334.3(FRRS1L): c.737_739delGAG (p.Gly246del) deletion Conflicting interpretations of pathogenicity rs878853282 GRCh38 Chromosome 9, 109141466: 109141468
6 FRRS1L NM_014334.3(FRRS1L): c.737_739delGAG (p.Gly246del) deletion Conflicting interpretations of pathogenicity rs878853282 GRCh37 Chromosome 9, 111903746: 111903748
7 FRRS1L NM_014334.3(FRRS1L): c.436dupA (p.Ile146Asnfs) duplication Pathogenic rs878853283 GRCh38 Chromosome 9, 109149676: 109149676
8 FRRS1L NM_014334.3(FRRS1L): c.436dupA (p.Ile146Asnfs) duplication Pathogenic rs878853283 GRCh37 Chromosome 9, 111911956: 111911956
9 FRRS1L NM_014334.3(FRRS1L): c.465G> A (p.Lys155=) single nucleotide variant Benign rs138531590 GRCh37 Chromosome 9, 111911927: 111911927
10 FRRS1L NM_014334.3(FRRS1L): c.465G> A (p.Lys155=) single nucleotide variant Benign rs138531590 GRCh38 Chromosome 9, 109149647: 109149647
11 FRRS1L NM_014334.3(FRRS1L): c.1A> T (p.Met1Leu) single nucleotide variant Benign rs527415212 GRCh38 Chromosome 9, 109167291: 109167291
12 FRRS1L NM_014334.3(FRRS1L): c.1A> T (p.Met1Leu) single nucleotide variant Benign rs527415212 GRCh37 Chromosome 9, 111929571: 111929571
13 FRRS1L NM_014334.3(FRRS1L): c.686T> C (p.Val229Ala) single nucleotide variant Uncertain significance rs148986846 GRCh38 Chromosome 9, 109141519: 109141519
14 FRRS1L NM_014334.3(FRRS1L): c.686T> C (p.Val229Ala) single nucleotide variant Uncertain significance rs148986846 GRCh37 Chromosome 9, 111903799: 111903799
15 FRRS1L NM_014334.3(FRRS1L): c.640G> A (p.Val214Ile) single nucleotide variant Uncertain significance rs374214528 GRCh38 Chromosome 9, 109141565: 109141565
16 FRRS1L NM_014334.3(FRRS1L): c.640G> A (p.Val214Ile) single nucleotide variant Uncertain significance rs374214528 GRCh37 Chromosome 9, 111903845: 111903845
17 FRRS1L NM_014334.3(FRRS1L): c.298delG (p.Asp100Thrfs) deletion Pathogenic rs933379958 GRCh38 Chromosome 9, 109166994: 109166994
18 FRRS1L NM_014334.3(FRRS1L): c.298delG (p.Asp100Thrfs) deletion Pathogenic rs933379958 GRCh37 Chromosome 9, 111929274: 111929274
19 FRRS1L NM_014334.3(FRRS1L): c.279C> A (p.Pro93=) single nucleotide variant Likely benign GRCh37 Chromosome 9, 111929293: 111929293
20 FRRS1L NM_014334.3(FRRS1L): c.279C> A (p.Pro93=) single nucleotide variant Likely benign GRCh38 Chromosome 9, 109167013: 109167013
21 FRRS1L NM_014334.3(FRRS1L): c.151_152delCGinsGC (p.Arg51Ala) indel Benign GRCh38 Chromosome 9, 109167140: 109167141
22 FRRS1L NM_014334.3(FRRS1L): c.151_152delCGinsGC (p.Arg51Ala) indel Benign GRCh37 Chromosome 9, 111929420: 111929421
23 FRRS1L NM_014334.3(FRRS1L): c.874C> T (p.Arg292Ter) single nucleotide variant Pathogenic rs1054228594 GRCh38 Chromosome 9, 109137616: 109137616
24 FRRS1L NM_014334.3(FRRS1L): c.874C> T (p.Arg292Ter) single nucleotide variant Pathogenic rs1054228594 GRCh37 Chromosome 9, 111899896: 111899896
25 FRRS1L NM_014334.3(FRRS1L): c.861G> T (p.Gln287His) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 109141344: 109141344
26 FRRS1L NM_014334.3(FRRS1L): c.861G> T (p.Gln287His) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 111903624: 111903624
27 FRRS1L NM_014334.3(FRRS1L): c.579T> C (p.Gly193=) single nucleotide variant Benign rs199500767 GRCh38 Chromosome 9, 109147087: 109147087
28 FRRS1L NM_014334.3(FRRS1L): c.579T> C (p.Gly193=) single nucleotide variant Benign rs199500767 GRCh37 Chromosome 9, 111909367: 111909367
29 FRRS1L NM_014334.3(FRRS1L): c.548T> C (p.Val183Ala) single nucleotide variant Uncertain significance rs149005559 GRCh38 Chromosome 9, 109147118: 109147118
30 FRRS1L NM_014334.3(FRRS1L): c.548T> C (p.Val183Ala) single nucleotide variant Uncertain significance rs149005559 GRCh37 Chromosome 9, 111909398: 111909398
31 FRRS1L NM_014334.3(FRRS1L): c.286C> A (p.Arg96Ser) single nucleotide variant Benign rs573029562 GRCh38 Chromosome 9, 109167006: 109167006
32 FRRS1L NM_014334.3(FRRS1L): c.286C> A (p.Arg96Ser) single nucleotide variant Benign rs573029562 GRCh37 Chromosome 9, 111929286: 111929286
33 FRRS1L NM_014334.3(FRRS1L): c.742T> G (p.Phe248Val) single nucleotide variant Uncertain significance rs145737336 GRCh37 Chromosome 9, 111903743: 111903743
34 FRRS1L NM_014334.3(FRRS1L): c.742T> G (p.Phe248Val) single nucleotide variant Uncertain significance rs145737336 GRCh38 Chromosome 9, 109141463: 109141463
35 FRRS1L NM_014334.3(FRRS1L): c.636C> A (p.Ala212=) single nucleotide variant Likely benign rs754499375 GRCh37 Chromosome 9, 111903849: 111903849
36 FRRS1L NM_014334.3(FRRS1L): c.636C> A (p.Ala212=) single nucleotide variant Likely benign rs754499375 GRCh38 Chromosome 9, 109141569: 109141569
37 FRRS1L NM_014334.3(FRRS1L): c.497A> G (p.Asn166Ser) single nucleotide variant Uncertain significance rs1001609848 GRCh37 Chromosome 9, 111909449: 111909449
38 FRRS1L NM_014334.3(FRRS1L): c.497A> G (p.Asn166Ser) single nucleotide variant Uncertain significance rs1001609848 GRCh38 Chromosome 9, 109147169: 109147169
39 FRRS1L NM_014334.3(FRRS1L): c.91G> A (p.Ala31Thr) single nucleotide variant Likely benign rs530413587 GRCh37 Chromosome 9, 111929481: 111929481
40 FRRS1L NM_014334.3(FRRS1L): c.91G> A (p.Ala31Thr) single nucleotide variant Likely benign rs530413587 GRCh38 Chromosome 9, 109167201: 109167201
41 FRRS1L NM_014334.3(FRRS1L): c.885A> G (p.Ile295Met) single nucleotide variant Uncertain significance rs369428108 GRCh37 Chromosome 9, 111899885: 111899885
42 FRRS1L NM_014334.3(FRRS1L): c.885A> G (p.Ile295Met) single nucleotide variant Uncertain significance rs369428108 GRCh38 Chromosome 9, 109137605: 109137605
43 FRRS1L NM_014334.3(FRRS1L): c.697G> A (p.Ala233Thr) single nucleotide variant Uncertain significance rs776628840 GRCh37 Chromosome 9, 111903788: 111903788
44 FRRS1L NM_014334.3(FRRS1L): c.697G> A (p.Ala233Thr) single nucleotide variant Uncertain significance rs776628840 GRCh38 Chromosome 9, 109141508: 109141508
45 FRRS1L NM_014334.3(FRRS1L): c.343G> C (p.Gly115Arg) single nucleotide variant Uncertain significance rs936685159 GRCh37 Chromosome 9, 111929229: 111929229
46 FRRS1L NM_014334.3(FRRS1L): c.343G> C (p.Gly115Arg) single nucleotide variant Uncertain significance rs936685159 GRCh38 Chromosome 9, 109166949: 109166949
47 FRRS1L NM_014334.3(FRRS1L): c.1015C> G (p.Leu339Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 109137475: 109137475
48 FRRS1L NM_014334.3(FRRS1L): c.1015C> G (p.Leu339Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 111899755: 111899755
49 FRRS1L NM_014334.3(FRRS1L): c.863-4A> C single nucleotide variant Benign rs372086662 GRCh37 Chromosome 9, 111899911: 111899911
50 FRRS1L NM_014334.3(FRRS1L): c.863-4A> C single nucleotide variant Benign rs372086662 GRCh38 Chromosome 9, 109137631: 109137631

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

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