EIEE12
MCID: EPL024
MIFTS: 26

Epileptic Encephalopathy, Early Infantile, 12 (EIEE12)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 12

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

Name: Epileptic Encephalopathy, Early Infantile, 12 58 54 76 13 74
Early Infantile Epileptic Encephalopathy 12 12 54 30 6
Eiee12 58 54 76
Encephalopathy, Epileptic, Early Infantile, Type 12 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
epileptic encephalopathy, early infantile, 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080459
OMIM 58 613722
MeSH 45 D013036
MedGen 43 C3150988
UMLS 74 C3150988

Summaries for Epileptic Encephalopathy, Early Infantile, 12

NIH Rare Diseases : 54 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, also known as early infantile epileptic encephalopathy 12, is related to early infantile epileptic encephalopathy, 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 liver, and related phenotypes are spasticity and hyperreflexia

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.

UniProtKB/Swiss-Prot : 76 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 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

Diseases related to Epileptic Encephalopathy, Early Infantile, 12 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy 9.5 PLCB1 PNKP

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 12

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

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 HP:0001257
2 hyperreflexia 33 HP:0001347
3 epileptic encephalopathy 33 HP:0200134
4 hypsarrhythmia 33 HP:0002521
5 focal-onset seizure 33 HP:0007359
6 muscular hypotonia of the trunk 33 HP:0008936
7 generalized-onset seizure 33 HP:0002197

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
hyperreflexia
generalized seizures
hypsarrhythmia
axial hypotonia
more

Clinical features from OMIM:

613722

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 30 PLCB1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 12

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

42
Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 12

Articles related to Epileptic Encephalopathy, Early Infantile, 12:

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

Variations for Epileptic Encephalopathy, Early Infantile, 12

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

6 (show top 50) (show all 442)
# Gene Variation Type Significance SNP ID Assembly Location
1 PNKP NM_007254.4(PNKP): c.1253_1269dup (p.Thr424Glyfs) duplication Pathogenic rs587784365 GRCh38 Chromosome 19, 49861801: 49861817
2 PNKP NM_007254.4(PNKP): c.1253_1269dup (p.Thr424Glyfs) duplication Pathogenic rs587784365 GRCh37 Chromosome 19, 50365058: 50365074
3 PLCB1 PLCB1, 0.5-MB DEL deletion Pathogenic
4 PNKP NM_007254.3(PNKP): c.1127-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs3739203 GRCh37 Chromosome 19, 50365370: 50365370
5 PNKP NM_007254.3(PNKP): c.1127-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs3739203 GRCh38 Chromosome 19, 49862113: 49862113
6 PNKP NM_007254.3(PNKP): c.1189-10delG deletion Benign/Likely benign rs3739205 GRCh37 Chromosome 19, 50365148: 50365148
7 PNKP NM_007254.3(PNKP): c.1189-10delG deletion Benign/Likely benign rs3739205 GRCh38 Chromosome 19, 49861891: 49861891
8 PNKP NM_007254.3(PNKP): c.1360C> A (p.Leu454Met) single nucleotide variant Uncertain significance rs200611702 GRCh37 Chromosome 19, 50364891: 50364891
9 PNKP NM_007254.3(PNKP): c.1360C> A (p.Leu454Met) single nucleotide variant Uncertain significance rs200611702 GRCh38 Chromosome 19, 49861634: 49861634
10 PNKP NM_007254.3(PNKP): c.1385G> A (p.Arg462Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs376854895 GRCh37 Chromosome 19, 50364866: 50364866
11 PNKP NM_007254.3(PNKP): c.1385G> A (p.Arg462Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs376854895 GRCh38 Chromosome 19, 49861609: 49861609
12 PNKP NM_007254.3(PNKP): c.1491C> T (p.Ala497=) single nucleotide variant Conflicting interpretations of pathogenicity rs116192442 GRCh37 Chromosome 19, 50364580: 50364580
13 PNKP NM_007254.3(PNKP): c.1491C> T (p.Ala497=) single nucleotide variant Conflicting interpretations of pathogenicity rs116192442 GRCh38 Chromosome 19, 49861323: 49861323
14 PNKP NM_007254.3(PNKP): c.1497G> A (p.Leu499=) single nucleotide variant Conflicting interpretations of pathogenicity rs142199280 GRCh37 Chromosome 19, 50364574: 50364574
15 PNKP NM_007254.3(PNKP): c.1497G> A (p.Leu499=) single nucleotide variant Conflicting interpretations of pathogenicity rs142199280 GRCh38 Chromosome 19, 49861317: 49861317
16 PNKP NM_007254.3(PNKP): c.308C> T (p.Thr103Ile) single nucleotide variant Uncertain significance rs115419706 GRCh37 Chromosome 19, 50368574: 50368574
17 PNKP NM_007254.3(PNKP): c.308C> T (p.Thr103Ile) single nucleotide variant Uncertain significance rs115419706 GRCh38 Chromosome 19, 49865317: 49865317
18 PNKP NM_007254.3(PNKP): c.538C> A (p.Arg180Ser) single nucleotide variant Benign/Likely benign rs3739185 GRCh37 Chromosome 19, 50367621: 50367621
19 PNKP NM_007254.3(PNKP): c.538C> A (p.Arg180Ser) single nucleotide variant Benign/Likely benign rs3739185 GRCh38 Chromosome 19, 49864364: 49864364
20 PNKP NM_007254.3(PNKP): c.579G> A (p.Arg193=) single nucleotide variant Conflicting interpretations of pathogenicity rs145904995 GRCh37 Chromosome 19, 50367493: 50367493
21 PNKP NM_007254.3(PNKP): c.579G> A (p.Arg193=) single nucleotide variant Conflicting interpretations of pathogenicity rs145904995 GRCh38 Chromosome 19, 49864236: 49864236
22 PNKP NM_007254.3(PNKP): c.587A> G (p.Tyr196Cys) single nucleotide variant Uncertain significance rs138931842 GRCh37 Chromosome 19, 50367485: 50367485
23 PNKP NM_007254.3(PNKP): c.587A> G (p.Tyr196Cys) single nucleotide variant Uncertain significance rs138931842 GRCh38 Chromosome 19, 49864228: 49864228
24 PNKP NM_007254.3(PNKP): c.58C> T (p.Pro20Ser) single nucleotide variant Benign/Likely benign rs3739168 GRCh37 Chromosome 19, 50370404: 50370404
25 PNKP NM_007254.3(PNKP): c.58C> T (p.Pro20Ser) single nucleotide variant Benign/Likely benign rs3739168 GRCh38 Chromosome 19, 49867147: 49867147
26 PNKP NM_007254.3(PNKP): c.831G> A (p.Thr277=) single nucleotide variant Conflicting interpretations of pathogenicity rs148491228 GRCh37 Chromosome 19, 50365981: 50365981
27 PNKP NM_007254.3(PNKP): c.831G> A (p.Thr277=) single nucleotide variant Conflicting interpretations of pathogenicity rs148491228 GRCh38 Chromosome 19, 49862724: 49862724
28 PLCB1 NM_015192.3(PLCB1): c.3550C> T (p.Leu1184Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs28390202 GRCh37 Chromosome 20, 8862395: 8862395
29 PLCB1 NM_015192.3(PLCB1): c.3550C> T (p.Leu1184Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs28390202 GRCh38 Chromosome 20, 8881748: 8881748
30 PLCB1 NM_015192.3(PLCB1): c.458A> T (p.Glu153Val) single nucleotide variant Benign/Likely benign rs45496299 GRCh37 Chromosome 20, 8626822: 8626822
31 PLCB1 NM_015192.3(PLCB1): c.458A> T (p.Glu153Val) single nucleotide variant Benign/Likely benign rs45496299 GRCh38 Chromosome 20, 8646175: 8646175
32 PLCB1 NM_015192.3(PLCB1): c.1167+7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs45466294 GRCh37 Chromosome 20, 8678437: 8678437
33 PLCB1 NM_015192.3(PLCB1): c.1167+7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs45466294 GRCh38 Chromosome 20, 8697790: 8697790
34 PLCB1 NM_015192.3(PLCB1): c.1469A> G (p.Tyr490Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs45608240 GRCh37 Chromosome 20, 8698451: 8698451
35 PLCB1 NM_015192.3(PLCB1): c.1469A> G (p.Tyr490Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs45608240 GRCh38 Chromosome 20, 8717804: 8717804
36 PLCB1 NM_015192.3(PLCB1): c.2191C> G (p.Pro731Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61755434 GRCh37 Chromosome 20, 8717822: 8717822
37 PLCB1 NM_015192.3(PLCB1): c.2191C> G (p.Pro731Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61755434 GRCh38 Chromosome 20, 8737175: 8737175
38 PLCB1 NM_015192.3(PLCB1): c.2199G> A (p.Val733=) single nucleotide variant Benign/Likely benign rs8118206 GRCh37 Chromosome 20, 8717830: 8717830
39 PLCB1 NM_015192.3(PLCB1): c.2199G> A (p.Val733=) single nucleotide variant Benign/Likely benign rs8118206 GRCh38 Chromosome 20, 8737183: 8737183
40 PLCB1 NM_015192.3(PLCB1): c.2413+9C> T single nucleotide variant Benign/Likely benign rs138442805 GRCh37 Chromosome 20, 8721104: 8721104
41 PLCB1 NM_015192.3(PLCB1): c.2413+9C> T single nucleotide variant Benign/Likely benign rs138442805 GRCh38 Chromosome 20, 8740457: 8740457
42 PLCB1 NM_015192.3(PLCB1): c.2565G> A (p.Ala855=) single nucleotide variant Benign/Likely benign rs2076413 GRCh37 Chromosome 20, 8737734: 8737734
43 PLCB1 NM_015192.3(PLCB1): c.2565G> A (p.Ala855=) single nucleotide variant Benign/Likely benign rs2076413 GRCh38 Chromosome 20, 8757087: 8757087
44 PLCB1 NM_015192.3(PLCB1): c.2967G> A (p.Thr989=) single nucleotide variant Conflicting interpretations of pathogenicity rs45464693 GRCh37 Chromosome 20, 8755222: 8755222
45 PLCB1 NM_015192.3(PLCB1): c.2967G> A (p.Thr989=) single nucleotide variant Conflicting interpretations of pathogenicity rs45464693 GRCh38 Chromosome 20, 8774575: 8774575
46 PLCB1 NM_015192.3(PLCB1): c.2988T> C (p.Ala996=) single nucleotide variant Benign rs2235613 GRCh37 Chromosome 20, 8755243: 8755243
47 PLCB1 NM_015192.3(PLCB1): c.2988T> C (p.Ala996=) single nucleotide variant Benign rs2235613 GRCh38 Chromosome 20, 8774596: 8774596
48 PLCB1 NM_015192.3(PLCB1): c.3120A> G (p.Gln1040=) single nucleotide variant Benign/Likely benign rs61755436 GRCh37 Chromosome 20, 8769104: 8769104
49 PLCB1 NM_015192.3(PLCB1): c.3120A> G (p.Gln1040=) single nucleotide variant Benign/Likely benign rs61755436 GRCh38 Chromosome 20, 8788457: 8788457
50 PLCB1 NM_015192.3(PLCB1): c.3188+8C> T single nucleotide variant Benign rs2327089 GRCh37 Chromosome 20, 8769180: 8769180

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

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