EIEE37
MCID: EPL189
MIFTS: 28

Epileptic Encephalopathy, Early Infantile, 37 (EIEE37)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral 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 56 73 29 6
Eiee37 56 73
Encephalopathy, Epileptic, Early Infantile, Type 37 39
Early Infantile Epileptic Encephalopathy 37 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
epileptic encephalopathy, early infantile, 37:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 37

OMIM : 56 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). Affiliated tissues include eye, bone and liver, and 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 : 73 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
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 37

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

31 (showing 16, show less)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 intellectual disability 31 HP:0001249
3 seizures 31 HP:0001250
4 spasticity 31 HP:0001257
5 gait disturbance 31 HP:0001288
6 developmental regression 31 HP:0002376
7 global developmental delay 31 HP:0001263
8 myoclonus 31 HP:0001336
9 generalized hypotonia 31 HP:0001290
10 absent speech 31 HP:0001344
11 rigidity 31 HP:0002063
12 epileptic encephalopathy 31 HP:0200134
13 choreoathetosis 31 HP:0001266
14 cerebellar atrophy 31 HP:0001272
15 cerebral atrophy 31 HP:0002059
16 hyperkinetic movements 31 HP:0002487

Symptoms via clinical synopsis from OMIM:

56
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

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 37:

40
Eye, Bone, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 37

Articles related to Epileptic Encephalopathy, Early Infantile, 37:

(showing 5, show less)
# 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. 56 6
27239025 2016
2
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 56 6
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. 56 6
21147040 2011
4
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
5
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 37

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

6 (showing 56, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FRRS1L NM_014334.3(FRRS1L):c.961C>T (p.Gln321Ter)SNV Pathogenic 218151 rs878853280 9:111899809-111899809 9:109137529-109137529
2 FRRS1L NM_014334.3(FRRS1L):c.845G>A (p.Trp282Ter)SNV Pathogenic 218152 rs878853281 9:111903640-111903640 9:109141360-109141360
3 FRRS1L NM_014334.3(FRRS1L):c.436dup (p.Ile146fs)duplication Pathogenic 218154 rs878853283 9:111911955-111911956 9:109149675-109149676
4 FRRS1L NM_014334.3(FRRS1L):c.298del (p.Asp100fs)deletion Pathogenic 476302 rs933379958 9:111929274-111929274 9:109166994-109166994
5 FRRS1L NM_014334.3(FRRS1L):c.874C>T (p.Arg292Ter)SNV Pathogenic 476309 rs1054228594 9:111899896-111899896 9:109137616-109137616
6 FRRS1L NM_014334.3(FRRS1L):c.670C>T (p.Gln224Ter)SNV Pathogenic 659759 9:111903815-111903815 9:109141535-109141535
7 FRRS1L NM_014334.3(FRRS1L):c.639C>A (p.Cys213Ter)SNV Pathogenic 575860 rs779716535 9:111903846-111903846 9:109141566-109141566
8 FRRS1L NM_014334.3(FRRS1L):c.451_452TG[1] (p.Cys151fs)short repeat Pathogenic 569279 rs1564232243 9:111911938-111911939 9:109149658-109149659
9 FRRS1L NM_014334.3(FRRS1L):c.737_739del (p.Gly246del)deletion Pathogenic/Likely pathogenic 218153 rs878853282 9:111903746-111903748 9:109141466-109141468
10 FRRS1L NM_014334.3(FRRS1L):c.616-2A>GSNV Likely pathogenic 570377 rs1564229228 9:111903871-111903871 9:109141591-109141591
11 FRRS1L NM_014334.3(FRRS1L):c.541G>A (p.Ala181Thr)SNV Uncertain significance 572219 rs1483638106 9:111909405-111909405 9:109147125-109147125
12 FRRS1L NM_014334.3(FRRS1L):c.461C>T (p.Thr154Ile)SNV Uncertain significance 570281 rs756282891 9:111911931-111911931 9:109149651-109149651
13 FRRS1L NM_014334.3(FRRS1L):c.293G>T (p.Arg98Leu)SNV Uncertain significance 575276 rs1352910846 9:111929279-111929279 9:109166999-109166999
14 FRRS1L NM_014334.3(FRRS1L):c.290C>T (p.Ala97Val)SNV Uncertain significance 581503 rs888930181 9:111929282-111929282 9:109167002-109167002
15 FRRS1L NM_014334.3(FRRS1L):c.947C>T (p.Pro316Leu)SNV Uncertain significance 646195 9:111899823-111899823 9:109137543-109137543
16 FRRS1L NM_014334.3(FRRS1L):c.937A>G (p.Ile313Val)SNV Uncertain significance 659738 9:111899833-111899833 9:109137553-109137553
17 FRRS1L NM_014334.3(FRRS1L):c.910G>A (p.Val304Ile)SNV Uncertain significance 651686 9:111899860-111899860 9:109137580-109137580
18 FRRS1L NM_014334.3(FRRS1L):c.893C>T (p.Pro298Leu)SNV Uncertain significance 649021 9:111899877-111899877 9:109137597-109137597
19 FRRS1L NM_014334.3(FRRS1L):c.861G>A (p.Gln287=)SNV Uncertain significance 654448 9:111903624-111903624 9:109141344-109141344
20 FRRS1L NM_014334.3(FRRS1L):c.752A>G (p.Asn251Ser)SNV Uncertain significance 662348 9:111903733-111903733 9:109141453-109141453
21 FRRS1L NM_014334.3(FRRS1L):c.861G>T (p.Gln287His)SNV Uncertain significance 476308 rs1381027576 9:111903624-111903624 9:109141344-109141344
22 FRRS1L NM_014334.3(FRRS1L):c.742T>G (p.Phe248Val)SNV Uncertain significance 542874 rs145737336 9:111903743-111903743 9:109141463-109141463
23 FRRS1L NM_014334.3(FRRS1L):c.497A>G (p.Asn166Ser)SNV Uncertain significance 542865 rs1001609848 9:111909449-111909449 9:109147169-109147169
24 FRRS1L NM_014334.3(FRRS1L):c.885A>G (p.Ile295Met)SNV Uncertain significance 542864 rs369428108 9:111899885-111899885 9:109137605-109137605
25 FRRS1L NM_014334.3(FRRS1L):c.697G>A (p.Ala233Thr)SNV Uncertain significance 542867 rs776628840 9:111903788-111903788 9:109141508-109141508
26 FRRS1L NM_014334.3(FRRS1L):c.343G>C (p.Gly115Arg)SNV Uncertain significance 542866 rs936685159 9:111929229-111929229 9:109166949-109166949
27 FRRS1L NM_014334.3(FRRS1L):c.1015C>G (p.Leu339Val)SNV Uncertain significance 542869 rs1554732084 9:111899755-111899755 9:109137475-109137475
28 FRRS1L NM_014334.3(FRRS1L):c.709C>G (p.Gln237Glu)SNV Uncertain significance 542872 rs894314771 9:111903776-111903776 9:109141496-109141496
29 FRRS1L NM_014334.3(FRRS1L):c.401T>C (p.Phe134Ser)SNV Uncertain significance 542868 rs1554733324 9:111911991-111911991 9:109149711-109149711
30 FRRS1L NM_014334.3(FRRS1L):c.262C>T (p.Pro88Ser)SNV Uncertain significance 542873 rs1361706547 9:111929310-111929310 9:109167030-109167030
31 FRRS1L NM_014334.3(FRRS1L):c.206T>G (p.Leu69Arg)SNV Uncertain significance 542871 rs1477068520 9:111929366-111929366 9:109167086-109167086
32 FRRS1L NM_014334.3(FRRS1L):c.32C>G (p.Ala11Gly)SNV Uncertain significance 542863 rs560644274 9:111929540-111929540 9:109167260-109167260
33 FRRS1L NM_014334.3(FRRS1L):c.116C>T (p.Ala39Val)SNV Uncertain significance 542870 rs1554736531 9:111929456-111929456 9:109167176-109167176
34 FRRS1L NM_014334.3(FRRS1L):c.757G>A (p.Val253Ile)SNV Uncertain significance 569298 rs753224453 9:111903728-111903728 9:109141448-109141448
35 FRRS1L NM_014334.3(FRRS1L):c.363C>A (p.Phe121Leu)SNV Uncertain significance 575617 rs1564238009 9:111929209-111929209 9:109166929-109166929
36 FRRS1L NM_014334.3(FRRS1L):c.331G>C (p.Asp111His)SNV Uncertain significance 572403 rs772506414 9:111929241-111929241 9:109166961-109166961
37 FRRS1L NM_014334.3(FRRS1L):c.330C>G (p.His110Gln)SNV Uncertain significance 576688 rs1564238035 9:111929242-111929242 9:109166962-109166962
38 FRRS1L NM_014334.3(FRRS1L):c.67G>A (p.Gly23Ser)SNV Uncertain significance 567554 rs1564238301 9:111929505-111929505 9:109167225-109167225
39 FRRS1L NM_014334.3(FRRS1L):c.755G>A (p.Arg252His)SNV Uncertain significance 565887 rs574642289 9:111903730-111903730 9:109141450-109141450
40 FRRS1L NM_014334.3(FRRS1L):c.98_111delinsGG (p.Ala33_Pro37delinsGly)indel Uncertain significance 576567 rs1564238253 9:111929461-111929474 9:109167181-109167194
41 FRRS1L NM_014334.3(FRRS1L):c.73G>A (p.Gly25Ser)SNV Uncertain significance 582034 rs1257708797 9:111929499-111929499 9:109167219-109167219
42 FRRS1L NM_014334.3(FRRS1L):c.927G>C (p.Lys309Asn)SNV Uncertain significance 575240 rs1564227702 9:111899843-111899843 9:109137563-109137563
43 FRRS1L NM_014334.3(FRRS1L):c.686T>C (p.Val229Ala)SNV Uncertain significance 476307 rs148986846 9:111903799-111903799 9:109141519-109141519
44 FRRS1L NM_014334.3(FRRS1L):c.640G>A (p.Val214Ile)SNV Uncertain significance 476306 rs374214528 9:111903845-111903845 9:109141565-109141565
45 FRRS1L NM_014334.3(FRRS1L):c.607A>C (p.Lys203Gln)SNV Uncertain significance 665833 9:111909339-111909339 9:109147059-109147059
46 FRRS1L NM_014334.3(FRRS1L):c.590T>A (p.Val197Asp)SNV Uncertain significance 644118 9:111909356-111909356 9:109147076-109147076
47 FRRS1L NM_014334.3(FRRS1L):c.448G>A (p.Asp150Asn)SNV Uncertain significance 654560 9:111911944-111911944 9:109149664-109149664
48 FRRS1L NM_014334.3(FRRS1L):c.317C>A (p.Ala106Glu)SNV Uncertain significance 659265 9:111929255-111929255 9:109166975-109166975
49 FRRS1L NM_014334.3(FRRS1L):c.284G>T (p.Gly95Val)SNV Uncertain significance 643001 9:111929288-111929288 9:109167008-109167008
50 FRRS1L NM_014334.3(FRRS1L):c.199C>T (p.Leu67Phe)SNV Uncertain significance 649936 9:111929373-111929373 9:109167093-109167093
51 FRRS1L NM_014334.3(FRRS1L):c.89C>T (p.Pro30Leu)SNV Uncertain significance 657353 9:111929483-111929483 9:109167203-109167203
52 FRRS1L NM_014334.3(FRRS1L):c.59G>T (p.Arg20Leu)SNV Uncertain significance 638945 9:111929513-111929513 9:109167233-109167233
53 FRRS1L NM_014334.3(FRRS1L):c.2T>A (p.Met1Lys)SNV Uncertain significance 652546 9:111929570-111929570 9:109167290-109167290
54 FRRS1L NM_014334.3(FRRS1L):c.636C>A (p.Ala212=)SNV Likely benign 542876 rs754499375 9:111903849-111903849 9:109141569-109141569
55 FRRS1L NM_014334.3(FRRS1L):c.1A>T (p.Met1Leu)SNV Benign 476299 rs527415212 9:111929571-111929571 9:109167291-109167291
56 FRRS1L NM_014334.4(FRRS1L):c.-3C>GSNV Benign 707495 9:111929421-111929421 9:109167141-109167141

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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