MCID: EPL027
MIFTS: 34

Epileptic Encephalopathy, Early Infantile, 4

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 4

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 4:

Name: Epileptic Encephalopathy, Early Infantile, 4 53 71 13 69
Early Myoclonic Encephalopathy 71 69
Eiee4 53 71
Neonatal Epilepsy with Suppression-Burst Pattern 71
Eme 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in neonatal period or infancy
seizures are usually intractable
seizures are fever-sensitive


HPO:

31
epileptic encephalopathy, early infantile, 4:
Onset and clinical course variable expressivity neonatal onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 4

UniProtKB/Swiss-Prot : 71 Epileptic encephalopathy, early infantile, 4: A severe 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. Affected individuals have neonatal or infantile onset of seizures, profound mental retardation, and MRI evidence of brain hypomyelination.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 4, also known as early myoclonic encephalopathy, is related to encephalopathy and epileptic encephalopathy, early infantile, 15, and has symptoms including tremor, developmental regression and spastic tetraplegia. An important gene associated with Epileptic Encephalopathy, Early Infantile, 4 is STXBP1 (Syntaxin Binding Protein 1). Affiliated tissues include brain.

Description from OMIM: 612164

Related Diseases for Epileptic Encephalopathy, Early Infantile, 4

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

Diseases related to Epileptic Encephalopathy, Early Infantile, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 encephalopathy 29.9 SLC25A22 STXBP1
2 epileptic encephalopathy, early infantile, 15 29.4 SLC25A22 STXBP1
3 west syndrome 29.0 SLC25A22 STXBP1
4 early myoclonic encephalopathy 12.4
5 eosinophilia-myalgia syndrome 12.0
6 erythema multiforme 11.8
7 epileptic encephalopathy, early infantile, 3 11.6
8 stxbp1 encephalopathy with epilepsy 11.3
9 infantile epileptic encephalopathy 10.0
10 epileptic encephalopathy, early infantile, 7 9.8
11 nephrotic syndrome 9.8
12 nephronophthisis 9.8
13 epilepsy 9.8
14 retinitis 9.8
15 schinzel giedion syndrome 9.8
16 neonatal period electroclinical syndrome 9.7 SLC25A22 STXBP1
17 epileptic encephalopathy, early infantile, 6 9.6 SLC25A22 STXBP1

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 4:



Diseases related to Epileptic Encephalopathy, Early Infantile, 4

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 4

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
tremor
seizures, tonic
developmental regression
spastic paraplegia
status epilepticus
more
Head And Neck Eyes:
poor visual pursuit


Clinical features from OMIM:

612164

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 4:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 tremor 31 HP:0001337
2 developmental regression 31 HP:0002376
3 spastic tetraplegia 31 HP:0002510
4 intellectual disability, severe 31 HP:0010864
5 generalized myoclonic seizures 31 HP:0002123
6 severe global developmental delay 31 HP:0011344
7 absent speech 31 HP:0001344
8 generalized tonic-clonic seizures 31 HP:0002069
9 spastic paraplegia 31 HP:0001258
10 hypoplasia of the corpus callosum 31 HP:0002079
11 status epilepticus 31 HP:0002133
12 cerebral atrophy 31 HP:0002059
13 generalized hypotonia 31 HP:0001290
14 hypsarrhythmia 31 HP:0002521
15 generalized tonic seizures 31 HP:0010818
16 epileptic encephalopathy 31 HP:0200134
17 epileptic spasms 31 HP:0011097
18 eeg with burst suppression 31 HP:0010851
19 cerebral hypomyelination 31 HP:0006808
20 impaired horizontal smooth pursuit 31 HP:0001151
21 infantile encephalopathy 31 HP:0007105

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 4:


myoclonic seizures, absence seizures, tonic seizures, tremor, muscle spasticity

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 4

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 4

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 4

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 4

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 4:

38
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 4

Articles related to Epileptic Encephalopathy, Early Infantile, 4:

(show all 27)
# Title Authors Year
1
A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation. ( 28687180 )
2017
2
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. ( 27789573 )
2016
3
Early Myoclonic Encephalopathy in 9q33-q34 Deletion Encompassing STXBP1 and SPTAN1. ( 25779878 )
2015
4
A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy. ( 26371980 )
2015
5
Successful treatment of early myoclonic encephalopathy using lidocaine and carbamazepine. ( 23886871 )
2013
6
Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. ( 23044011 )
2012
7
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. ( 21507589 )
2012
8
Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia. ( 22261077 )
2012
9
Dextromethorphan in the treatment of early myoclonic encephalopathy evolving into migrating partial seizures in infancy. ( 22656400 )
2012
10
Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: a functional neuroimaging study. ( 19922588 )
2010
11
Early myoclonic encephalopathy and nonketotic hyperglycinemia. ( 19818941 )
2009
12
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4. ( 18854870 )
2009
13
Early myoclonic encephalopathy. ( 19812426 )
2009
14
Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia. ( 16551461 )
2006
15
Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other? ( 16829044 )
2006
16
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. ( 16829045 )
2006
17
Repetitive EEG recordings are necessary for the diagnosis of early myoclonic encephalopathy. ( 16010070 )
2005
18
Topiramate for the treatment of infants with early myoclonic encephalopathy. ( 23649028 )
2003
19
Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome. ( 11701285 )
2001
20
A neurodegenerative disorder with early myoclonic encephalopathy, retinal pigmentary degeneration and nephronophthisis. ( 10761830 )
2000
21
The controversy regarding diagnostic criteria for early myoclonic encephalopathy. ( 9840674 )
1998
22
A case of early myoclonic encephalopathy with the congenital nephrotic syndrome. ( 9105663 )
1997
23
Early infantile epileptic syndromes with suppression-bursts: early myoclonic encephalopathy vs. Ohtahara syndrome. ( 8271543 )
1993
24
Burst suppression and impairment of neocortical ontogenesis: electroclinical and neuropathologic findings in two infants with early myoclonic encephalopathy. ( 8404728 )
1993
25
Clinical seizure manifestations in a case of early myoclonic encephalopathy. ( 2124298 )
1990
26
Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions. ( 2120281 )
1990
27
Clinical and electroencephalographical follow-up study of early myoclonic encephalopathy. ( 2510534 )
1989

Variations for Epileptic Encephalopathy, Early Infantile, 4

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 4:

71 (show all 18)
# Symbol AA change Variation ID SNP ID
1 STXBP1 p.Val84Asp VAR_046205 rs121918320
2 STXBP1 p.Cys180Tyr VAR_046206 rs121918318
3 STXBP1 p.Met443Arg VAR_046207 rs121918319
4 STXBP1 p.Gly544Asp VAR_046208 rs121918317
5 STXBP1 p.Glu283Lys VAR_071814 rs587777310
6 STXBP1 p.Asp285Tyr VAR_071815
7 STXBP1 p.His445Pro VAR_071816
8 STXBP1 p.Leu183Arg VAR_073149
9 STXBP1 p.Ala251Thr VAR_073150
10 STXBP1 p.Arg406His VAR_073151 rs886041246
11 STXBP1 p.Pro480Leu VAR_073153 rs796053368
12 STXBP1 p.Thr574Pro VAR_073154
13 STXBP1 p.Arg406Cys VAR_078218 rs796053367
14 STXBP1 p.Ser42Phe VAR_078631
15 STXBP1 p.Arg190Trp VAR_078633 rs796053355
16 STXBP1 p.Cys354Arg VAR_078634 rs886041337
17 STXBP1 p.Leu281Pro VAR_078758
18 STXBP1 p.Arg292His VAR_078759 rs796053361

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 4:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A22 NM_001191061.1(SLC25A22): c.328G> C (p.Gly110Arg) single nucleotide variant Pathogenic rs587777243 GRCh38 Chromosome 11, 792954: 792954
2 STXBP1 NM_003165.3(STXBP1): c.847G> A (p.Glu283Lys) single nucleotide variant Pathogenic rs587777310 GRCh37 Chromosome 9, 130430411: 130430411
3 STXBP1 NM_003165.3(STXBP1): c.433T> C (p.Tyr145His) single nucleotide variant Likely pathogenic rs587784455 GRCh38 Chromosome 9, 127663208: 127663208
4 STXBP1 NM_001032221.3(STXBP1): c.754_755delAT (p.Met252Glufs) deletion Pathogenic rs587784454 GRCh38 Chromosome 9, 127666256: 127666257
5 STXBP1 NM_003165.3(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 GRCh37 Chromosome 9, 130423419: 130423419
6 SLC25A22 NM_001191061.1(SLC25A22): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121918334 GRCh37 Chromosome 11, 792429: 792429
7 SLC25A22 NM_001191061.1(SLC25A22): c.706G> T (p.Gly236Trp) single nucleotide variant Pathogenic rs121918335 GRCh37 Chromosome 11, 792340: 792340
8 STXBP1 NM_003165.3(STXBP1): c.1631G> A (p.Gly544Asp) single nucleotide variant Pathogenic rs121918317 GRCh37 Chromosome 9, 130444768: 130444768
9 STXBP1 NM_003165.3(STXBP1): c.539G> A (p.Cys180Tyr) single nucleotide variant Pathogenic rs121918318 GRCh37 Chromosome 9, 130425593: 130425593
10 STXBP1 NM_003165.3(STXBP1): c.1328T> G (p.Met443Arg) single nucleotide variant Pathogenic rs121918319 GRCh37 Chromosome 9, 130439001: 130439001
11 STXBP1 NM_003165.3(STXBP1): c.251T> A (p.Val84Asp) single nucleotide variant Pathogenic rs121918320 GRCh37 Chromosome 9, 130422313: 130422313
12 STXBP1 NM_003165.3(STXBP1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121918321 GRCh37 Chromosome 9, 130438134: 130438134
13 STXBP1 NM_003165.3(STXBP1): c.169+1G> A single nucleotide variant Pathogenic rs587776641 GRCh37 Chromosome 9, 130416076: 130416076
14 STXBP1 NM_003165.3(STXBP1): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic rs796053353 GRCh38 Chromosome 9, 127661192: 127661192
15 STXBP1 NM_003165.3(STXBP1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs796053355 GRCh37 Chromosome 9, 130425622: 130425622
16 STXBP1 NM_003165.3(STXBP1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs796053359 GRCh38 Chromosome 9, 127666205: 127666205
17 STXBP1 NM_003165.3(STXBP1): c.875G> A (p.Arg292His) single nucleotide variant Pathogenic rs796053361 GRCh37 Chromosome 9, 130430439: 130430439
18 STXBP1 NM_003165.3(STXBP1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs796053368 GRCh38 Chromosome 9, 127678510: 127678510
19 STXBP1 NM_003165.3(STXBP1): c.1651C> T (p.Arg551Cys) single nucleotide variant Pathogenic rs796053373 GRCh37 Chromosome 9, 130444788: 130444788
20 STXBP1 NM_003165.3(STXBP1): c.1029+1G> C single nucleotide variant Pathogenic rs727504173 GRCh38 Chromosome 9, 127672117: 127672117
21 SLC25A22 NM_024698.5(SLC25A22): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs797045969 GRCh38 Chromosome 11, 792722: 792722
22 STXBP1 NM_003165.3(STXBP1): c.1217G> A (p.Arg406His) single nucleotide variant Pathogenic rs886041246 GRCh37 Chromosome 9, 130438189: 130438189
23 STXBP1 NM_003165.3(STXBP1): c.400_401delAA (p.Asn134Tyrfs) deletion Pathogenic rs886044141 GRCh37 Chromosome 9, 130423455: 130423456
24 STXBP1 NM_003165.3(STXBP1): c.902+1G> A single nucleotide variant Pathogenic rs886041978 GRCh37 Chromosome 9, 130430467: 130430467
25 STXBP1 NM_003165.3(STXBP1): c.1006C> T (p.Gln336Ter) single nucleotide variant Pathogenic rs1057519501 GRCh37 Chromosome 9, 130434372: 130434372
26 STXBP1 NM_001032221.3(STXBP1): c.87+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 9, 127651654: 127651654

Expression for Epileptic Encephalopathy, Early Infantile, 4

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 4.

Pathways for Epileptic Encephalopathy, Early Infantile, 4

GO Terms for Epileptic Encephalopathy, Early Infantile, 4

Cellular components related to Epileptic Encephalopathy, Early Infantile, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.62 SLC25A22 STXBP1

Sources for Epileptic Encephalopathy, Early Infantile, 4

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10 dbSNP
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70 UMLS via Orphanet
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