DEE37
MCID: DVL063
MIFTS: 27

Developmental and Epileptic Encephalopathy 37 (DEE37)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 37

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 37:

Name: Developmental and Epileptic Encephalopathy 37 57 12
Epileptic Encephalopathy, Early Infantile, 37 57 73 29 6
Eiee37 57 73
Dee37 57 12
Epileptic Encephalopathy, Early Infantile, 37; Eiee37 57
Encephalopathy, Epileptic, Early Infantile, Type 37 39
Early Infantile Epileptic Encephalopathy 37 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
developmental and epileptic encephalopathy 37:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 37

OMIM® : 57 Developmental and epileptic encephalopathy-37 (DEE37) is an autosomal recessive epileptic-dyskinetic neurologic disorder characterized by the onset of intractable seizures or abnormal movements in the first months or years of life. Patients typically have normal or only mildly delayed development in early infancy, but then show developmental regression and stagnation after the onset of seizures, which can occur between about 6 months to 2 years of age. In addition to epileptic encephalopathy, affected individuals also manifest a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. There is severely impaired intellectual development and function, loss of verbal skills with absent speech, and impaired volitional movements (summary by Madeo et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (616981) (Updated 05-Mar-2021)

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

Disease Ontology : 12 A developmental and 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 Developmental and Epileptic Encephalopathy 37

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 37

Human phenotypes related to Developmental and Epileptic Encephalopathy 37:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
developmental regression
global developmental delay
myoclonus
absent speech
more
Head And Neck Eyes:
nystagmus (in some patients)

Clinical features from OMIM®:

616981 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 37

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 37

Genetic Tests for Developmental and Epileptic Encephalopathy 37

Genetic tests related to Developmental and Epileptic Encephalopathy 37:

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

Anatomical Context for Developmental and Epileptic Encephalopathy 37

Publications for Developmental and Epileptic Encephalopathy 37

Articles related to Developmental and Epileptic Encephalopathy 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. 57 6
27239025 2016
2
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 6 57
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. 57 6
21147040 2011

Variations for Developmental and Epileptic Encephalopathy 37

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 37:

6 (show top 50) (show all 116)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FRRS1L NM_014334.3(FRRS1L):c.874C>T (p.Arg292Ter) SNV Pathogenic 476309 rs1054228594 9:111899896-111899896 9:109137616-109137616
2 FRRS1L NM_014334.3(FRRS1L):c.639C>A (p.Cys213Ter) SNV Pathogenic 575860 rs779716535 9:111903846-111903846 9:109141566-109141566
3 FRRS1L NM_014334.3(FRRS1L):c.298del (p.Asp100fs) Deletion Pathogenic 476302 rs933379958 9:111929274-111929274 9:109166994-109166994
4 FRRS1L NM_014334.3(FRRS1L):c.670C>T (p.Gln224Ter) SNV Pathogenic 659759 rs1564229174 9:111903815-111903815 9:109141535-109141535
5 FRRS1L NM_014334.3(FRRS1L):c.451_452TG[1] (p.Cys151fs) Microsatellite Pathogenic 569279 rs1564232243 9:111911938-111911939 9:109149658-109149659
6 FRRS1L NC_000009.12:g.(?_109147031)_(109147209_?)del Deletion Pathogenic 831493 9:111909311-111909489
7 FRRS1L NM_014334.4(FRRS1L):c.568del (p.Ala190fs) Deletion Pathogenic 952733 9:111903764-111903764 9:109141484-109141484
8 FRRS1L NM_014334.4(FRRS1L):c.431del (p.Val144fs) Deletion Pathogenic 984706 9:111909362-111909362 9:109147082-109147082
9 FRRS1L NM_014334.3(FRRS1L):c.961C>T (p.Gln321Ter) SNV Pathogenic 218151 rs878853280 9:111899809-111899809 9:109137529-109137529
10 FRRS1L NM_014334.3(FRRS1L):c.436dup (p.Ile146fs) Duplication Pathogenic 218154 rs878853283 9:111911955-111911956 9:109149675-109149676
11 FRRS1L NM_014334.3(FRRS1L):c.845G>A (p.Trp282Ter) SNV Pathogenic 218152 rs878853281 9:111903640-111903640 9:109141360-109141360
12 FRRS1L NM_014334.4(FRRS1L):c.583G>T (p.Gly195Ter) SNV Pathogenic 951389 9:111903749-111903749 9:109141469-109141469
13 FRRS1L NM_014334.3(FRRS1L):c.737_739del (p.Gly246del) Deletion Likely pathogenic 218153 rs878853282 9:111903746-111903748 9:109141466-109141468
14 FRRS1L NM_014334.4(FRRS1L):c.239-2A>G SNV Likely pathogenic 935339 9:111912002-111912002 9:109149722-109149722
15 FRRS1L NM_014334.3(FRRS1L):c.616-2A>G SNV Likely pathogenic 570377 rs1564229228 9:111903871-111903871 9:109141591-109141591
16 FRRS1L NM_014334.3(FRRS1L):c.541G>A (p.Ala181Thr) SNV Uncertain significance 572219 rs1483638106 9:111909405-111909405 9:109147125-109147125
17 FRRS1L NM_014334.3(FRRS1L):c.331G>C (p.Asp111His) SNV Uncertain significance 572403 rs772506414 9:111929241-111929241 9:109166961-109166961
18 FRRS1L NM_014334.3(FRRS1L):c.927G>C (p.Lys309Asn) SNV Uncertain significance 575240 rs1564227702 9:111899843-111899843 9:109137563-109137563
19 FRRS1L NM_014334.3(FRRS1L):c.293G>T (p.Arg98Leu) SNV Uncertain significance 575276 rs1352910846 9:111929279-111929279 9:109166999-109166999
20 FRRS1L NM_014334.3(FRRS1L):c.363C>A (p.Phe121Leu) SNV Uncertain significance 575617 rs1564238009 9:111929209-111929209 9:109166929-109166929
21 FRRS1L NM_014334.3(FRRS1L):c.755G>A (p.Arg252His) SNV Uncertain significance 565887 rs574642289 9:111903730-111903730 9:109141450-109141450
22 FRRS1L NM_014334.3(FRRS1L):c.67G>A (p.Gly23Ser) SNV Uncertain significance 567554 rs1564238301 9:111929505-111929505 9:109167225-109167225
23 FRRS1L NM_014334.3(FRRS1L):c.757G>A (p.Val253Ile) SNV Uncertain significance 569298 rs753224453 9:111903728-111903728 9:109141448-109141448
24 FRRS1L NM_014334.3(FRRS1L):c.461C>T (p.Thr154Ile) SNV Uncertain significance 570281 rs756282891 9:111911931-111911931 9:109149651-109149651
25 FRRS1L NM_014334.3(FRRS1L):c.752A>G (p.Asn251Ser) SNV Uncertain significance 662348 rs373827794 9:111903733-111903733 9:109141453-109141453
26 FRRS1L NM_014334.3(FRRS1L):c.607A>C (p.Lys203Gln) SNV Uncertain significance 665833 rs763406191 9:111909339-111909339 9:109147059-109147059
27 FRRS1L NC_000009.12:g.(?_109137435)_(109167311_?)dup Duplication Uncertain significance 832759 9:111899715-111929591
28 FRRS1L NM_014334.4(FRRS1L):c.463G>C (p.Gly155Arg) SNV Uncertain significance 836181 9:111903869-111903869 9:109141589-109141589
29 FRRS1L NM_014334.4(FRRS1L):c.602G>T (p.Arg201Leu) SNV Uncertain significance 839153 9:111903730-111903730 9:109141450-109141450
30 FRRS1L NM_014334.4(FRRS1L):c.860A>G (p.Tyr287Cys) SNV Uncertain significance 839992 9:111899757-111899757 9:109137477-109137477
31 FRRS1L NM_014334.4(FRRS1L):c.688G>T (p.Ala230Ser) SNV Uncertain significance 842029 9:111903644-111903644 9:109141364-109141364
32 FRRS1L NM_014334.4(FRRS1L):c.64G>A (p.Gly22Arg) SNV Uncertain significance 846994 9:111929355-111929355 9:109167075-109167075
33 FRRS1L NM_014334.4(FRRS1L):c.755G>A (p.Arg252His) SNV Uncertain significance 847412 9:111899862-111899862 9:109137582-109137582
34 FRRS1L NM_014334.4(FRRS1L):c.23A>T (p.His8Leu) SNV Uncertain significance 848908 9:111929396-111929396 9:109167116-109167116
35 FRRS1L NM_014334.4(FRRS1L):c.334C>T (p.Pro112Ser) SNV Uncertain significance 849381 9:111909459-111909459 9:109147179-109147179
36 FRRS1L NM_014334.4(FRRS1L):c.512G>T (p.Arg171Leu) SNV Uncertain significance 849850 9:111903820-111903820 9:109141540-109141540
37 FRRS1L NM_014334.4(FRRS1L):c.-33C>G SNV Uncertain significance 851070 9:111929451-111929451 9:109167171-109167171
38 FRRS1L NM_014334.4(FRRS1L):c.145G>C (p.Asp49His) SNV Uncertain significance 852951 9:111929274-111929274 9:109166994-109166994
39 FRRS1L NM_014334.4(FRRS1L):c.111G>A (p.Pro37=) SNV Uncertain significance 854938 9:111929308-111929308 9:109167028-109167028
40 FRRS1L NM_014334.4(FRRS1L):c.-73C>G SNV Uncertain significance 855191 9:111929491-111929491 9:109167211-109167211
41 FRRS1L NM_014334.4(FRRS1L):c.231G>A (p.Ser77=) SNV Uncertain significance 855812 9:111929188-111929188 9:109166908-109166908
42 FRRS1L NM_014334.4(FRRS1L):c.641G>A (p.Arg214Lys) SNV Uncertain significance 856580 9:111903691-111903691 9:109141411-109141411
43 FRRS1L NM_014334.4(FRRS1L):c.232G>A (p.Glu78Lys) SNV Uncertain significance 858868 9:111929187-111929187 9:109166907-109166907
44 FRRS1L NM_014334.4(FRRS1L):c.124C>A (p.Pro42Thr) SNV Uncertain significance 863840 9:111929295-111929295 9:109167015-109167015
45 FRRS1L NM_014334.4(FRRS1L):c.398A>G (p.Glu133Gly) SNV Uncertain significance 934664 9:111909395-111909395 9:109147115-109147115
46 FRRS1L NM_014334.4(FRRS1L):c.622C>T (p.Arg208Cys) SNV Uncertain significance 935338 9:111903710-111903710 9:109141430-109141430
47 FRRS1L NM_014334.3(FRRS1L):c.98_111delinsGG (p.Ala33_Pro37delinsGly) Indel Uncertain significance 576567 rs1564238253 9:111929461-111929474 9:109167181-109167194
48 FRRS1L NM_014334.3(FRRS1L):c.330C>G (p.His110Gln) SNV Uncertain significance 576688 rs1564238035 9:111929242-111929242 9:109166962-109166962
49 FRRS1L NM_014334.3(FRRS1L):c.290C>T (p.Ala97Val) SNV Uncertain significance 581503 rs888930181 9:111929282-111929282 9:109167002-109167002
50 FRRS1L NM_014334.3(FRRS1L):c.73G>A (p.Gly25Ser) SNV Uncertain significance 582034 rs1257708797 9:111929499-111929499 9:109167219-109167219

Expression for Developmental and Epileptic Encephalopathy 37

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 37.

Pathways for Developmental and Epileptic Encephalopathy 37

GO Terms for Developmental and Epileptic Encephalopathy 37

Sources for Developmental and Epileptic Encephalopathy 37

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
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19 FMA
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30 HMDB
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33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
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