MCID: EPL117
MIFTS: 26

Epileptic Encephalopathy, Early Infantile, 16

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 16

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 16:

Name: Epileptic Encephalopathy, Early Infantile, 16 57 75 73
Early Infantile Epileptic Encephalopathy 16 29 6
Eiee16 57 75
Encephalopathy, Epileptic, Early Infantile, Type 16 40
Progressive Myoclonic Epilepsy with Dystonia 59
Progressive Myoclonus Epilepsy with Dystonia 59
Pmed 59

Characteristics:

Orphanet epidemiological data:

59
progressive myoclonic epilepsy with dystonia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early infancy
high frequency seizures
seizures may be triggered by infection
seizures are refractory to medication
most patients die in childhood


HPO:

32
epileptic encephalopathy, early infantile, 16:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 16

OMIM : 57 Early infantile epileptic encephalopathy-16 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood (summary by Duru et al., 2010 and Milh et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (615338)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 16, also known as early infantile epileptic encephalopathy 16, is related to myoclonic epilepsy of unverricht and lundborg and epilepsy, and has symptoms including hemiparesis, myoclonus and abnormality of extrapyramidal motor function. An important gene associated with Epileptic Encephalopathy, Early Infantile, 16 is TBC1D24 (TBC1 Domain Family Member 24). Affiliated tissues include eye, and related phenotypes are developmental regression and global developmental delay

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, early infantile, 16: A severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 16

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

Diseases related to Epileptic Encephalopathy, Early Infantile, 16 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of unverricht and lundborg 10.0
2 epilepsy 10.0
3 dystonia 10.0

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 16

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
myoclonus
dystonia
status epilepticus
hemiparesis
epileptic encephalopathy
more
Muscle Soft Tissue:
hypotonia, severe

Head And Neck Eyes:
visual loss
optic atrophy (rare)
loss of eye contact

Head And Neck Head:
microcephaly, acquired (in some patients)


Clinical features from OMIM:

615338

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 16:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 developmental regression 32 HP:0002376
2 global developmental delay 32 HP:0001263
3 optic atrophy 32 occasional (7.5%) HP:0000648
4 myoclonus 32 HP:0001336
5 dystonia 32 HP:0001332
6 visual loss 32 HP:0000572
7 abnormality of extrapyramidal motor function 32 HP:0002071
8 status epilepticus 32 HP:0002133
9 hemiparesis 32 HP:0001269
10 postnatal microcephaly 32 HP:0005484
11 generalized hypotonia 32 HP:0001290
12 epileptic encephalopathy 32 HP:0200134
13 severe muscular hypotonia 32 HP:0006829
14 delayed myelination 32 HP:0012448

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 16:


hemiparesis, myoclonus, abnormality of extrapyramidal motor function, unspecified visual loss

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 16

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 16

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 16

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 16:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 16 29 TBC1D24

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 16

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 16:

41
Eye

Publications for Epileptic Encephalopathy, Early Infantile, 16

Articles related to Epileptic Encephalopathy, Early Infantile, 16:

# Title Authors Year
1
Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. ( 21087195 )
2010

Variations for Epileptic Encephalopathy, Early Infantile, 16

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 16:

75
# Symbol AA change Variation ID SNP ID
1 TBC1D24 p.Phe229Ser VAR_070102 rs397514713
2 TBC1D24 p.Ala113Asp VAR_078184 rs770820144
3 TBC1D24 p.Leu159Pro VAR_078185 rs863223337

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 16:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBC1D24 NM_001199107.1(TBC1D24): c.969_970delGT (p.Ser324Thrfs) deletion Pathogenic rs398122941 GRCh37 Chromosome 16, 2547714: 2547715
2 TBC1D24 NM_001199107.1(TBC1D24): c.969_970delGT (p.Ser324Thrfs) deletion Pathogenic rs398122941 GRCh38 Chromosome 16, 2497713: 2497714
3 TBC1D24 NM_001199107.1(TBC1D24): c.686T> C (p.Phe229Ser) single nucleotide variant Pathogenic rs397514713 GRCh37 Chromosome 16, 2546835: 2546835
4 TBC1D24 NM_001199107.1(TBC1D24): c.686T> C (p.Phe229Ser) single nucleotide variant Pathogenic rs397514713 GRCh38 Chromosome 16, 2496834: 2496834
5 TBC1D24 NM_001199107.1(TBC1D24): c.468C> A (p.Cys156Ter) single nucleotide variant Pathogenic rs397514714 GRCh37 Chromosome 16, 2546617: 2546617
6 TBC1D24 NM_001199107.1(TBC1D24): c.468C> A (p.Cys156Ter) single nucleotide variant Pathogenic rs397514714 GRCh38 Chromosome 16, 2496616: 2496616
7 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh37 Chromosome 16, 2546873: 2546873
8 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh38 Chromosome 16, 2496872: 2496872
9 TBC1D24 NM_020705.2(TBC1D24): c.1218G> C (p.Trp406Cys) single nucleotide variant no interpretation for the single variant rs863224931 GRCh38 Chromosome 16, 2499864: 2499864
10 TBC1D24 NM_020705.2(TBC1D24): c.1218G> C (p.Trp406Cys) single nucleotide variant no interpretation for the single variant rs863224931 GRCh37 Chromosome 16, 2549865: 2549865
11 TBC1D24 NM_020705.2(TBC1D24): c.1270T> C (p.Cys424Arg) single nucleotide variant no interpretation for the single variant rs863224932 GRCh37 Chromosome 16, 2549917: 2549917
12 TBC1D24 NM_020705.2(TBC1D24): c.1270T> C (p.Cys424Arg) single nucleotide variant no interpretation for the single variant rs863224932 GRCh38 Chromosome 16, 2499916: 2499916

Expression for Epileptic Encephalopathy, Early Infantile, 16

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 16.

Pathways for Epileptic Encephalopathy, Early Infantile, 16

GO Terms for Epileptic Encephalopathy, Early Infantile, 16

Sources for Epileptic Encephalopathy, Early Infantile, 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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