DEE12
MCID: DVL040
MIFTS: 34

Developmental and Epileptic Encephalopathy 12 (DEE12)

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 12

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 12:

Name: Developmental and Epileptic Encephalopathy 12 57 12
Early Infantile Epileptic Encephalopathy 12 12 20 29 6 15
Epileptic Encephalopathy, Early Infantile, 12 57 20 73 13
Eiee12 57 20 73
Dee12 57 12
Epileptic Encephalopathy, Early Infantile, 12; Eiee12 57
Encephalopathy, Epileptic, Early Infantile, Type 12 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in early infancy
recurrent, refractory seizures
two unrelated patients have been reported (last curated december 2012)


HPO:

31
developmental and epileptic encephalopathy 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080459
OMIM® 57 613722
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036
MedGen 41 C3150988

Summaries for Developmental and Epileptic Encephalopathy 12

OMIM® : 57 Developmental and epileptic encephalopathy-12 (DEE12) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first year of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show severe developmental regression and stagnation. Seizure types vary: focal seizures, infantile spasms, and generalized tonic-clonic seizures may occur, even within the same patient. EEG may show hypsarrhythmia, consistent with West syndrome, or a pattern consistent with 'malignant migrating partial seizures in infancy' (MMPSI). Patients have little or no developmental progress: there is absent speech, hypotonia, poor motor skills, peripheral spasticity, and impaired visual fixation (summary by Kurian et al., 2010 and Poduri et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see 308350. (613722) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 12, also known as early infantile epileptic encephalopathy 12, is related to alagille syndrome 1 and isolated macular dystrophy, and has symptoms including muscle spasticity An important gene associated with Developmental and Epileptic Encephalopathy 12 is PLCB1 (Phospholipase C Beta 1). Affiliated tissues include eye, and related phenotypes are spasticity and hyperreflexia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has material basis in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.

GARD : 20 Early Infantile Epileptic Encephalopathy type 12 (EIEE12) is an extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 12: A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG.

Related Diseases for Developmental and Epileptic Encephalopathy 12

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

Diseases related to Developmental and Epileptic Encephalopathy 12 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alagille syndrome 1 9.8 MKKS JAG1
2 isolated macular dystrophy 9.7 ITGA4 CERKL
3 retinitis pigmentosa 26 9.7 ITGA4 CERKL

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 12

Human phenotypes related to Developmental and Epileptic Encephalopathy 12:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 hyperreflexia 31 HP:0001347
3 focal-onset seizure 31 HP:0007359
4 generalized-onset seizure 31 HP:0002197
5 muscular hypotonia of the trunk 31 HP:0008936
6 hypsarrhythmia 31 HP:0002521
7 epileptic encephalopathy 31 HP:0200134

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
hypsarrhythmia
generalized seizures
axial hypotonia
more

Clinical features from OMIM®:

613722 (Updated 05-Mar-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 12:


muscle spasticity

MGI Mouse Phenotypes related to Developmental and Epileptic Encephalopathy 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.02 ITGA4 JAG1 MKKS MSTN PLCB1

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 12

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 12

Genetic Tests for Developmental and Epileptic Encephalopathy 12

Genetic tests related to Developmental and Epileptic Encephalopathy 12:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 12 29 PLCB1

Anatomical Context for Developmental and Epileptic Encephalopathy 12

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 12:

40
Eye

Publications for Developmental and Epileptic Encephalopathy 12

Articles related to Developmental and Epileptic Encephalopathy 12:

# Title Authors PMID Year
1
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. 57 6
22690784 2012
2
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. 6 57
20833646 2010

Variations for Developmental and Epileptic Encephalopathy 12

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 12:

6 (show top 50) (show all 552)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PNKP NM_007254.4(PNKP):c.603dup (p.Lys202Ter) Duplication Pathogenic 206424 rs796052859 19:50367468-50367469 19:49864211-49864212
2 PNKP NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) SNV Pathogenic 187766 rs786203983 19:50365445-50365445 19:49862188-49862188
3 PNKP NM_007254.4(PNKP):c.143del (p.Arg48fs) Deletion Pathogenic 580950 rs766530579 19:50370319-50370319 19:49867062-49867062
4 PNKP NM_007254.4(PNKP):c.1386+49_1387-33del Deletion Pathogenic 211919 rs752902474 19:50364800-50364816 19:49861543-49861559
5 PLCB1 NM_015192.4(PLCB1):c.1612G>T (p.Glu538Ter) SNV Pathogenic 648249 rs1600278094 20:8705333-8705333 20:8724686-8724686
6 PNKP NM_007254.4(PNKP):c.63del (p.Ile22fs) Deletion Pathogenic 652248 rs1568663209 19:50370399-50370399 19:49867142-49867142
7 PNKP NM_007254.4(PNKP):c.1315C>T (p.Arg439Ter) SNV Pathogenic 379820 rs539286945 19:50364936-50364936 19:49861679-49861679
8 PNKP NM_007254.4(PNKP):c.1203_1291del (p.Trp402fs) Deletion Pathogenic 656086 rs1568659036 19:50365036-50365124 19:49861779-49861867
9 PLCB1 NC_000020.10:g.(?_8113279)_(8352117_?)del Deletion Pathogenic 831489 20:8113279-8352117
10 PNKP NM_007254.4(PNKP):c.916_917del (p.Phe306fs) Deletion Pathogenic 841020 19:50365814-50365815 19:49862557-49862558
11 PNKP NM_007254.4(PNKP):c.1065_1081del (p.Ser357fs) Deletion Pathogenic 854848 19:50365487-50365503 19:49862230-49862246
12 PNKP NM_007254.4(PNKP):c.363dup (p.Thr122fs) Duplication Pathogenic 854038 19:50368518-50368519 19:49865261-49865262
13 PNKP NM_007254.4(PNKP):c.47del (p.Pro16fs) Deletion Pathogenic 947000 19:50370415-50370415 19:49867158-49867158
14 PNKP NM_007254.4(PNKP):c.1422_1423del (p.Ser475fs) Microsatellite Pathogenic 951982 19:50364731-50364732 19:49861474-49861475
15 PNKP NM_007254.4(PNKP):c.1207C>T (p.Gln403Ter) SNV Pathogenic 383110 rs372404688 19:50365120-50365120 19:49861863-49861863
16 PNKP NM_007254.4(PNKP):c.1044_1065dup (p.Glu356fs) Duplication Pathogenic 966033 19:50365502-50365503 19:49862245-49862246
17 PNKP NM_007254.4(PNKP):c.1440T>G (p.Tyr480Ter) SNV Pathogenic 942530 19:50364714-50364714 19:49861457-49861457
18 PNKP NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) Duplication Pathogenic 4847 rs587784365 19:50365057-50365058 19:49861800-49861801
19 PNKP NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) SNV Pathogenic 854429 19:50364522-50364522 19:49861265-49861265
20 PLCB1 NC_000020.10:g.(8094049_8094072)_(8580261_8580284)del Deletion Pathogenic 30644 20:8094049-8580284
21 PNKP NM_007254.4(PNKP):c.1295_1298+6del Deletion Pathogenic 159788 rs587784366 19:50365023-50365032 19:49861766-49861775
22 PNKP NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) Deletion Pathogenic 190219 rs786205207 19:50365104-50365106 19:49861847-49861849
23 PNKP NM_007254.4(PNKP):c.1298+1_1298+10del Deletion Likely pathogenic 944401 19:50365019-50365028 19:49861762-49861771
24 PLCB1 NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter) SNV Likely pathogenic 813910 rs990536521 20:8637900-8637900 20:8657253-8657253
25 PLCB1 NM_015192.4(PLCB1):c.2036_2039del (p.Ser679fs) Deletion Likely pathogenic 625996 rs1568577135 20:8714029-8714032 20:8733382-8733385
26 PLCB1 NM_015192.4(PLCB1):c.288G>T (p.Gly96=) SNV Conflicting interpretations of pathogenicity 339495 rs200521017 20:8608982-8608982 20:8628335-8628335
27 PLCB1 NM_015192.4(PLCB1):c.724G>A (p.Val242Ile) SNV Conflicting interpretations of pathogenicity 339500 rs200567140 20:8639213-8639213 20:8658566-8658566
28 PLCB1 NM_015192.4(PLCB1):c.1761A>G (p.Val587=) SNV Conflicting interpretations of pathogenicity 339505 rs143755415 20:8708038-8708038 20:8727391-8727391
29 PLCB1 NM_015192.4(PLCB1):c.627A>G (p.Pro209=) SNV Conflicting interpretations of pathogenicity 339497 rs151006778 20:8637863-8637863 20:8657216-8657216
30 PLCB1 NM_015192.4(PLCB1):c.1678+10C>T SNV Conflicting interpretations of pathogenicity 194661 rs369652433 20:8705409-8705409 20:8724762-8724762
31 PLCB1 NM_015192.4(PLCB1):c.2841A>G (p.Glu947=) SNV Conflicting interpretations of pathogenicity 415937 rs35245209 20:8745916-8745916 20:8765269-8765269
32 PLCB1 NM_015192.4(PLCB1):c.714A>C (p.Pro238=) SNV Conflicting interpretations of pathogenicity 339499 rs147567110 20:8639203-8639203 20:8658556-8658556
33 PLCB1 NM_015192.4(PLCB1):c.1881G>A (p.Gln627=) SNV Conflicting interpretations of pathogenicity 415939 rs45492700 20:8709814-8709814 20:8729167-8729167
34 PLCB1 NM_015192.4(PLCB1):c.2127G>A (p.Arg709=) SNV Conflicting interpretations of pathogenicity 288545 rs3761169 20:8717758-8717758 20:8737111-8737111
35 PLCB1 NM_015192.4(PLCB1):c.1491C>T (p.Phe497=) SNV Conflicting interpretations of pathogenicity 260594 rs145869401 20:8698473-8698473 20:8717826-8717826
36 PLCB1 NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) SNV Conflicting interpretations of pathogenicity 195829 rs141433824 20:8737719-8737719 20:8757072-8757072
37 PLCB1 NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=) SNV Conflicting interpretations of pathogenicity 195514 rs189186909 20:8717719-8717719 20:8737072-8737072
38 PLCB1 NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg) SNV Conflicting interpretations of pathogenicity 283209 rs186429469 20:8862429-8862429 20:8881782-8881782
39 PLCB1 NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) SNV Conflicting interpretations of pathogenicity 95688 rs28390202 20:8862395-8862395 20:8881748-8881748
40 PLCB1 NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) SNV Conflicting interpretations of pathogenicity 502172 rs148848282 20:8689379-8689379 20:8708732-8708732
41 PLCB1 NM_015192.4(PLCB1):c.1432G>A (p.Gly478Ser) SNV Uncertain significance 499431 rs749354249 20:8698414-8698414 20:8717767-8717767
42 PNKP NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) SNV Uncertain significance 194242 rs772610025 19:50365312-50365312 19:49862055-49862055
43 PNKP NM_007254.4(PNKP):c.212C>T (p.Pro71Leu) SNV Uncertain significance 966159 19:50368670-50368670 19:49865413-49865413
44 PLCB1 NM_015192.4(PLCB1):c.611A>T (p.Gln204Leu) SNV Uncertain significance 966391 20:8637847-8637847 20:8657200-8657200
45 PLCB1 NM_015192.4(PLCB1):c.673A>C (p.Ile225Leu) SNV Uncertain significance 966960 20:8637909-8637909 20:8657262-8657262
46 PLCB1 NM_015192.4(PLCB1):c.3449A>G (p.Tyr1150Cys) SNV Uncertain significance 967528 20:8862294-8862294 20:8881647-8881647
47 PNKP NM_007254.4(PNKP):c.107G>T (p.Gly36Val) SNV Uncertain significance 967840 19:50370355-50370355 19:49867098-49867098
48 PLCB1 NM_015192.4(PLCB1):c.106A>G (p.Thr36Ala) SNV Uncertain significance 968346 20:8130947-8130947 20:8150300-8150300
49 PNKP NM_007254.4(PNKP):c.1247G>A (p.Gly416Glu) SNV Uncertain significance 968817 19:50365080-50365080 19:49861823-49861823
50 PNKP NM_007254.4(PNKP):c.1029+3G>A SNV Uncertain significance 969723 19:50365625-50365625 19:49862368-49862368

Expression for Developmental and Epileptic Encephalopathy 12

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 12.

Pathways for Developmental and Epileptic Encephalopathy 12

GO Terms for Developmental and Epileptic Encephalopathy 12

Biological processes related to Developmental and Epileptic Encephalopathy 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fat cell differentiation GO:0045444 8.96 PLCB1 MKKS
2 negative regulation of blood pressure GO:0045776 8.62 MKKS ADM2

Sources for Developmental and Epileptic Encephalopathy 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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