EIEE16
MCID: EPL117
MIFTS: 30

Epileptic Encephalopathy, Early Infantile, 16 (EIEE16)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 58 76 74
Early Infantile Epileptic Encephalopathy 16 12 30 6 15
Eiee16 58 76
Encephalopathy, Epileptic, Early Infantile, Type 16 41
Progressive Myoclonic Epilepsy with Dystonia 60
Progressive Myoclonus Epilepsy with Dystonia 60
Pmed 60

Characteristics:

Orphanet epidemiological data:

60
progressive myoclonic epilepsy with dystonia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
epileptic encephalopathy, early infantile, 16:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 16

OMIM : 58 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 abnormal pyramidal sign and recurrent upper respiratory tract infections

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has material basis in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.

UniProtKB/Swiss-Prot : 76 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 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, 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 early myoclonic encephalopathy 10.1
4 dystonia 10.1

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 16

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

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0007256
2 recurrent upper respiratory tract infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002788
3 myoclonus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001336
4 dystonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001332
5 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
6 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
7 generalized myoclonic seizures 60 33 frequent (33%) Frequent (79-30%) HP:0002123
8 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
9 epileptic encephalopathy 60 33 frequent (33%) Frequent (79-30%) HP:0200134
10 status epilepticus 60 33 frequent (33%) Frequent (79-30%) HP:0002133
11 generalized neonatal hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0008935
12 delayed cns myelination 60 33 frequent (33%) Frequent (79-30%) HP:0002188
13 eeg with irregular generalized spike and wave complexes 60 33 frequent (33%) Frequent (79-30%) HP:0001326
14 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
15 optic atrophy 60 33 occasional (7.5%) Very rare (<4-1%) HP:0000648
16 abnormality of extrapyramidal motor function 60 33 occasional (7.5%) Occasional (29-5%) HP:0002071
17 hemiplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002301
18 hemiparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001269
19 excessive daytime sleepiness 60 33 occasional (7.5%) Occasional (29-5%) HP:0002189
20 diffuse cerebellar atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0100275
21 diffuse cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002506
22 poor visual behavior for age 60 33 occasional (7.5%) Occasional (29-5%) HP:0025152
23 visual loss 33 HP:0000572
24 severe muscular hypotonia 33 HP:0006829
25 generalized hypotonia 33 HP:0001290
26 cerebral atrophy 33 HP:0002059
27 postnatal microcephaly 33 HP:0005484
28 delayed myelination 33 HP:0012448
29 psychomotor retardation 33 HP:0025356

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
myoclonus
dystonia
epileptic encephalopathy
status epilepticus
hemiparesis
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

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 30 TBC1D24

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 16

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

42
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
2
TBC1D24 truncating mutation resulting in severe neurodegeneration. ( 23343562 )
2013
3
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. ( 23526554 )
2013
4
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:

76
# 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 18)
# 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.871G> A (p.Ala291Thr) single nucleotide variant Uncertain significance rs375307187 GRCh38 Chromosome 16, 2497019: 2497019
12 TBC1D24 NM_001199107.1(TBC1D24): c.871G> A (p.Ala291Thr) single nucleotide variant Uncertain significance rs375307187 GRCh37 Chromosome 16, 2547020: 2547020
13 TBC1D24 NM_001199107.1(TBC1D24): c.878G> A (p.Arg293His) single nucleotide variant Uncertain significance rs199700840 GRCh37 Chromosome 16, 2547027: 2547027
14 TBC1D24 NM_001199107.1(TBC1D24): c.878G> A (p.Arg293His) single nucleotide variant Uncertain significance rs199700840 GRCh38 Chromosome 16, 2497026: 2497026
15 TBC1D24 NM_001199107.1(TBC1D24): c.1253T> C (p.Phe418Ser) single nucleotide variant Uncertain significance rs776176742 GRCh38 Chromosome 16, 2499881: 2499881
16 TBC1D24 NM_001199107.1(TBC1D24): c.1253T> C (p.Phe418Ser) single nucleotide variant Uncertain significance rs776176742 GRCh37 Chromosome 16, 2549882: 2549882
17 TBC1D24 NM_001199107.1(TBC1D24): c.734T> C (p.Leu245Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 2546883: 2546883
18 TBC1D24 NM_001199107.1(TBC1D24): c.734T> C (p.Leu245Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 2496882: 2496882

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

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