MCID: EPL024
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 12

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 12

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 12:

Name: Epileptic Encephalopathy, Early Infantile, 12 57 53 75 13 73
Early Infantile Epileptic Encephalopathy 12 53 29 6
Eiee12 57 53 75
Encephalopathy, Epileptic, Early Infantile, Type 12 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
epileptic encephalopathy, early infantile, 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613722
MedGen 42 C3150988
MeSH 44 D013036
UMLS 73 C3150988

Summaries for Epileptic Encephalopathy, Early Infantile, 12

NIH Rare Diseases : 53 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. 

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

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 613722

Related Diseases for Epileptic Encephalopathy, Early Infantile, 12

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, 12

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
hyperreflexia
generalized seizures
focal seizures
hypsarrhythmia
more

Clinical features from OMIM:

613722

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 12:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 spasticity 32 HP:0001257
2 hyperreflexia 32 HP:0001347
3 generalized seizures 32 HP:0002197
4 hypsarrhythmia 32 HP:0002521
5 focal seizures 32 HP:0007359
6 muscular hypotonia of the trunk 32 HP:0008936
7 epileptic encephalopathy 32 HP:0200134

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 12:


muscle spasticity

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 12

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 12

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 12

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 12:

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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 12

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 12:

41
Eye

Publications for Epileptic Encephalopathy, Early Infantile, 12

Variations for Epileptic Encephalopathy, Early Infantile, 12

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 12:

6
(show top 50) (show all 272)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLCB1 PLCB1, 0.5-MB DEL deletion Pathogenic
2 PNKP NM_007254.3(PNKP): c.1319C> G (p.Ala440Gly) single nucleotide variant Uncertain significance rs377688490 GRCh37 Chromosome 19, 50364932: 50364932
3 PNKP NM_007254.3(PNKP): c.1319C> G (p.Ala440Gly) single nucleotide variant Uncertain significance rs377688490 GRCh38 Chromosome 19, 49861675: 49861675
4 PNKP NM_007254.3(PNKP): c.994C> T (p.Pro332Ser) single nucleotide variant Uncertain significance rs373922574 GRCh37 Chromosome 19, 50365663: 50365663
5 PNKP NM_007254.3(PNKP): c.994C> T (p.Pro332Ser) single nucleotide variant Uncertain significance rs373922574 GRCh38 Chromosome 19, 49862406: 49862406
6 PNKP NM_007254.3(PNKP): c.671G> A (p.Arg224His) single nucleotide variant Uncertain significance rs199705876 GRCh37 Chromosome 19, 50367294: 50367294
7 PNKP NM_007254.3(PNKP): c.671G> A (p.Arg224His) single nucleotide variant Uncertain significance rs199705876 GRCh38 Chromosome 19, 49864037: 49864037
8 PNKP NM_007254.3(PNKP): c.416G> A (p.Arg139His) single nucleotide variant Conflicting interpretations of pathogenicity rs34472250 GRCh37 Chromosome 19, 50368466: 50368466
9 PNKP NM_007254.3(PNKP): c.416G> A (p.Arg139His) single nucleotide variant Conflicting interpretations of pathogenicity rs34472250 GRCh38 Chromosome 19, 49865209: 49865209
10 PNKP NM_007254.3(PNKP): c.188C> T (p.Ala63Val) single nucleotide variant Conflicting interpretations of pathogenicity rs3739173 GRCh37 Chromosome 19, 50369666: 50369666
11 PNKP NM_007254.3(PNKP): c.188C> T (p.Ala63Val) single nucleotide variant Conflicting interpretations of pathogenicity rs3739173 GRCh38 Chromosome 19, 49866409: 49866409
12 PNKP NM_007254.3(PNKP): c.1123G> T (p.Gly375Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs786203983 GRCh38 Chromosome 19, 49862188: 49862188
13 PNKP NM_007254.3(PNKP): c.1123G> T (p.Gly375Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs786203983 GRCh37 Chromosome 19, 50365445: 50365445
14 PNKP NM_007254.3(PNKP): c.1302C> T (p.Tyr434=) single nucleotide variant Conflicting interpretations of pathogenicity rs747244348 GRCh38 Chromosome 19, 49861692: 49861692
15 PNKP NM_007254.3(PNKP): c.1302C> T (p.Tyr434=) single nucleotide variant Conflicting interpretations of pathogenicity rs747244348 GRCh37 Chromosome 19, 50364949: 50364949
16 PLCB1 NM_015192.3(PLCB1): c.1678+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369652433 GRCh37 Chromosome 20, 8705409: 8705409
17 PLCB1 NM_015192.3(PLCB1): c.1678+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369652433 GRCh38 Chromosome 20, 8724762: 8724762
18 PLCB1 NM_015192.3(PLCB1): c.2088C> T (p.Tyr696=) single nucleotide variant Conflicting interpretations of pathogenicity rs189186909 GRCh37 Chromosome 20, 8717719: 8717719
19 PLCB1 NM_015192.3(PLCB1): c.2088C> T (p.Tyr696=) single nucleotide variant Conflicting interpretations of pathogenicity rs189186909 GRCh38 Chromosome 20, 8737072: 8737072
20 PLCB1 NM_015192.3(PLCB1): c.2550G> T (p.Glu850Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs141433824 GRCh37 Chromosome 20, 8737719: 8737719
21 PLCB1 NM_015192.3(PLCB1): c.2550G> T (p.Glu850Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs141433824 GRCh38 Chromosome 20, 8757072: 8757072
22 PNKP NM_007254.3(PNKP): c.501G> A (p.Val167=) single nucleotide variant Conflicting interpretations of pathogenicity rs142143566 GRCh37 Chromosome 19, 50367658: 50367658
23 PNKP NM_007254.3(PNKP): c.501G> A (p.Val167=) single nucleotide variant Conflicting interpretations of pathogenicity rs142143566 GRCh38 Chromosome 19, 49864401: 49864401
24 PNKP NM_007254.3(PNKP): c.625G> A (p.Glu209Lys) single nucleotide variant Uncertain significance rs773641701 GRCh37 Chromosome 19, 50367447: 50367447
25 PNKP NM_007254.3(PNKP): c.625G> A (p.Glu209Lys) single nucleotide variant Uncertain significance rs773641701 GRCh38 Chromosome 19, 49864190: 49864190
26 PNKP NM_007254.3(PNKP): c.853A> G (p.Ile285Val) single nucleotide variant Uncertain significance rs750224965 GRCh37 Chromosome 19, 50365959: 50365959
27 PNKP NM_007254.3(PNKP): c.853A> G (p.Ile285Val) single nucleotide variant Uncertain significance rs750224965 GRCh38 Chromosome 19, 49862702: 49862702
28 PNKP NM_007254.3(PNKP): c.1387-3_1387-2delCA deletion Conflicting interpretations of pathogenicity rs760066611 GRCh37 Chromosome 19, 50364769: 50364770
29 PNKP NM_007254.3(PNKP): c.1387-3_1387-2delCA deletion Conflicting interpretations of pathogenicity rs760066611 GRCh38 Chromosome 19, 49861512: 49861513
30 PNKP NM_007254.3(PNKP): c.1324G> A (p.Gly442Ser) single nucleotide variant Uncertain significance rs372459137 GRCh38 Chromosome 19, 49861670: 49861670
31 PNKP NM_007254.3(PNKP): c.1324G> A (p.Gly442Ser) single nucleotide variant Uncertain significance rs372459137 GRCh37 Chromosome 19, 50364927: 50364927
32 PNKP NM_007254.3(PNKP): c.1322C> G (p.Ala441Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs549000007 GRCh38 Chromosome 19, 49861672: 49861672
33 PNKP NM_007254.3(PNKP): c.1322C> G (p.Ala441Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs549000007 GRCh37 Chromosome 19, 50364929: 50364929
34 PNKP NM_007254.3(PNKP): c.1286_1298+6dup19 duplication Conflicting interpretations of pathogenicity rs760249644 GRCh37 Chromosome 19, 50365023: 50365041
35 PNKP NM_007254.3(PNKP): c.1286_1298+6dup19 duplication Conflicting interpretations of pathogenicity rs760249644 GRCh38 Chromosome 19, 49861766: 49861784
36 PNKP NM_007254.3(PNKP): c.1274A> G (p.Asn425Ser) single nucleotide variant Uncertain significance rs541840060 GRCh37 Chromosome 19, 50365053: 50365053
37 PNKP NM_007254.3(PNKP): c.1274A> G (p.Asn425Ser) single nucleotide variant Uncertain significance rs541840060 GRCh38 Chromosome 19, 49861796: 49861796
38 PNKP NM_007254.3(PNKP): c.1255G> A (p.Val419Ile) single nucleotide variant Uncertain significance rs756416098 GRCh37 Chromosome 19, 50365072: 50365072
39 PNKP NM_007254.3(PNKP): c.1255G> A (p.Val419Ile) single nucleotide variant Uncertain significance rs756416098 GRCh38 Chromosome 19, 49861815: 49861815
40 PNKP NM_007254.3(PNKP): c.1129G> A (p.Gly377Arg) single nucleotide variant Uncertain significance rs777457079 GRCh38 Chromosome 19, 49862103: 49862103
41 PNKP NM_007254.3(PNKP): c.1129G> A (p.Gly377Arg) single nucleotide variant Uncertain significance rs777457079 GRCh37 Chromosome 19, 50365360: 50365360
42 PNKP NM_007254.3(PNKP): c.1074_1085delGGCCCTCCTGAG (p.Arg358_Leu361del) deletion Uncertain significance rs796052865 GRCh38 Chromosome 19, 49862226: 49862237
43 PNKP NM_007254.3(PNKP): c.1074_1085delGGCCCTCCTGAG (p.Arg358_Leu361del) deletion Uncertain significance rs796052865 GRCh37 Chromosome 19, 50365483: 50365494
44 PNKP NM_007254.3(PNKP): c.1029+2T> C single nucleotide variant Conflicting interpretations of pathogenicity rs199919568 GRCh38 Chromosome 19, 49862369: 49862369
45 PNKP NM_007254.3(PNKP): c.1029+2T> C single nucleotide variant Conflicting interpretations of pathogenicity rs199919568 GRCh37 Chromosome 19, 50365626: 50365626
46 PNKP NM_007254.2(PNKP): c.603dupT duplication Pathogenic/Likely pathogenic rs796052859 GRCh38 Chromosome 19, 49864212: 49864212
47 PNKP NM_007254.2(PNKP): c.603dupT duplication Pathogenic/Likely pathogenic rs796052859 GRCh37 Chromosome 19, 50367469: 50367469
48 PNKP NM_007254.3(PNKP): c.422G> A (p.Arg141Gln) single nucleotide variant Uncertain significance rs570013652 GRCh38 Chromosome 19, 49865203: 49865203
49 PNKP NM_007254.3(PNKP): c.422G> A (p.Arg141Gln) single nucleotide variant Uncertain significance rs570013652 GRCh37 Chromosome 19, 50368460: 50368460
50 PNKP NM_007254.3(PNKP): c.406C> G (p.Pro136Ala) single nucleotide variant Uncertain significance rs759530456 GRCh38 Chromosome 19, 49865219: 49865219

Expression for Epileptic Encephalopathy, Early Infantile, 12

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 12.

Pathways for Epileptic Encephalopathy, Early Infantile, 12

GO Terms for Epileptic Encephalopathy, Early Infantile, 12

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 8.62 PLCB1 PNKP

Sources for Epileptic Encephalopathy, Early Infantile, 12

3 CDC
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17 ExPASy
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62 PubMed
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