EIEE16
MCID: EPL117
MIFTS: 28

Epileptic Encephalopathy, Early Infantile, 16 (EIEE16)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 myoclonus, abnormality of extrapyramidal motor function and hemiparesis. An important gene associated with Epileptic Encephalopathy, Early Infantile, 16 is TBC1D24 (TBC1 Domain Family Member 24). Affiliated tissues include eye and liver, 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
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy 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 10.1
2 epilepsy 10.1
3 dystonia 10.1

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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental regression 59 32 Frequent (79-30%) HP:0002376
2 global developmental delay 59 32 Occasional (29-5%) HP:0001263
3 optic atrophy 59 32 occasional (7.5%) Very rare (<4-1%) HP:0000648
4 myoclonus 59 32 Very frequent (99-80%) HP:0001336
5 dystonia 59 32 Very frequent (99-80%) HP:0001332
6 status epilepticus 59 32 Frequent (79-30%) HP:0002133
7 abnormality of extrapyramidal motor function 59 32 Occasional (29-5%) HP:0002071
8 hemiparesis 59 32 Occasional (29-5%) HP:0001269
9 epileptic encephalopathy 59 32 Frequent (79-30%) HP:0200134
10 abnormal pyramidal signs 59 Very frequent (99-80%)
11 microcephaly 59 Frequent (79-30%)
12 generalized myoclonic seizures 59 Frequent (79-30%)
13 feeding difficulties 59 Frequent (79-30%)
14 recurrent upper respiratory tract infections 59 Very frequent (99-80%)
15 visual loss 32 HP:0000572
16 hemiplegia 59 Occasional (29-5%)
17 severe muscular hypotonia 32 HP:0006829
18 generalized hypotonia 32 HP:0001290
19 cerebral atrophy 32 HP:0002059
20 postnatal microcephaly 32 HP:0005484
21 generalized neonatal hypotonia 59 Frequent (79-30%)
22 diffuse cerebellar atrophy 59 Occasional (29-5%)
23 delayed cns myelination 59 Frequent (79-30%)
24 diffuse cerebral atrophy 59 Occasional (29-5%)
25 excessive daytime sleepiness 59 Occasional (29-5%)
26 eeg with irregular generalized spike and wave complexes 59 Frequent (79-30%)
27 poor visual behavior for age 59 Occasional (29-5%)
28 delayed myelination 32 HP:0012448

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


myoclonus, abnormality of extrapyramidal motor function, hemiparesis, 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, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 16

Articles related to Epileptic Encephalopathy, Early Infantile, 16:

# Title Authors Year
1
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16. ( 28726039 )
2017

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_001199107.1(TBC1D24): c.493G> A (p.Gly165Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200926225 GRCh38 Chromosome 16, 2496641: 2496641
10 TBC1D24 NM_001199107.1(TBC1D24): c.493G> A (p.Gly165Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200926225 GRCh37 Chromosome 16, 2546642: 2546642
11 TBC1D24 NM_001199107.1(TBC1D24): c.1253T> C (p.Phe418Ser) single nucleotide variant Uncertain significance rs776176742 GRCh38 Chromosome 16, 2499881: 2499881
12 TBC1D24 NM_001199107.1(TBC1D24): c.1253T> C (p.Phe418Ser) single nucleotide variant Uncertain significance rs776176742 GRCh37 Chromosome 16, 2549882: 2549882

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

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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