EIEE37
MCID: EPL189
MIFTS: 23

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 58 76 30 6
Eiee37 58 76
Encephalopathy, Epileptic, Early Infantile, Type 37 41
Early Infantile Epileptic Encephalopathy 37 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
epileptic encephalopathy, early infantile, 37:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 37

OMIM : 58 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 : 76 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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 37

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

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 occasional (7.5%) HP:0000639
2 intellectual disability 33 HP:0001249
3 seizures 33 HP:0001250
4 spasticity 33 HP:0001257
5 gait disturbance 33 HP:0001288
6 developmental regression 33 HP:0002376
7 global developmental delay 33 HP:0001263
8 myoclonus 33 HP:0001336
9 absent speech 33 HP:0001344
10 rigidity 33 HP:0002063
11 choreoathetosis 33 HP:0001266
12 cerebellar atrophy 33 HP:0001272
13 generalized hypotonia 33 HP:0001290
14 cerebral atrophy 33 HP:0002059
15 epileptic encephalopathy 33 HP:0200134

Symptoms via clinical synopsis from OMIM:

58
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 30 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 94)
# 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 Pathogenic/Likely pathogenic rs878853282 GRCh38 Chromosome 9, 109141466: 109141468
6 FRRS1L NM_014334.3(FRRS1L): c.737_739delGAG (p.Gly246del) deletion Pathogenic/Likely pathogenic rs878853282 GRCh37 Chromosome 9, 111903746: 111903748
7 FRRS1L NM_014334.3(FRRS1L): c.436dup (p.Ile146Asnfs) duplication Pathogenic rs878853283 GRCh38 Chromosome 9, 109149676: 109149676
8 FRRS1L NM_014334.3(FRRS1L): c.436dup (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 GRCh37 Chromosome 9, 111929571: 111929571
12 FRRS1L NM_014334.3(FRRS1L): c.1A> T (p.Met1Leu) single nucleotide variant Benign rs527415212 GRCh38 Chromosome 9, 109167291: 109167291
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 rs1425779857 GRCh37 Chromosome 9, 111929293: 111929293
20 FRRS1L NM_014334.3(FRRS1L): c.279C> A (p.Pro93=) single nucleotide variant Likely benign rs1425779857 GRCh38 Chromosome 9, 109167013: 109167013
21 FRRS1L NM_014334.3(FRRS1L): c.151_152delCGinsGC (p.Arg51Ala) indel Benign rs1554736515 GRCh38 Chromosome 9, 109167140: 109167141
22 FRRS1L NM_014334.3(FRRS1L): c.151_152delCGinsGC (p.Arg51Ala) indel Benign rs1554736515 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 rs1381027576 GRCh38 Chromosome 9, 109141344: 109141344
26 FRRS1L NM_014334.3(FRRS1L): c.861G> T (p.Gln287His) single nucleotide variant Uncertain significance rs1381027576 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 GRCh38 Chromosome 9, 109141463: 109141463
34 FRRS1L NM_014334.3(FRRS1L): c.742T> G (p.Phe248Val) single nucleotide variant Uncertain significance rs145737336 GRCh37 Chromosome 9, 111903743: 111903743
35 FRRS1L NM_014334.3(FRRS1L): c.636C> A (p.Ala212=) single nucleotide variant Likely benign rs754499375 GRCh38 Chromosome 9, 109141569: 109141569
36 FRRS1L NM_014334.3(FRRS1L): c.636C> A (p.Ala212=) single nucleotide variant Likely benign rs754499375 GRCh37 Chromosome 9, 111903849: 111903849
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 GRCh38 Chromosome 9, 109167201: 109167201
40 FRRS1L NM_014334.3(FRRS1L): c.91G> A (p.Ala31Thr) single nucleotide variant Likely benign rs530413587 GRCh37 Chromosome 9, 111929481: 111929481
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 rs1554732084 GRCh38 Chromosome 9, 109137475: 109137475
48 FRRS1L NM_014334.3(FRRS1L): c.1015C> G (p.Leu339Val) single nucleotide variant Uncertain significance rs1554732084 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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