EIEE16
MCID: EPL117
MIFTS: 33

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 57 74 72
Early Infantile Epileptic Encephalopathy 16 12 29 6 15
Eiee16 57 74
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:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080449
MeSH 44 D013036
ICD10 via Orphanet 34 G40.3
Orphanet 59 ORPHA352596
UMLS 72 C3809173

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 early myoclonic encephalopathy, 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). The drugs Vaccines and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include eye, 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 : 74 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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76

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

(showing 5, show less)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of unverricht and lundborg 10.1
2 early myoclonic encephalopathy 10.1
3 dystonia 10.1
4 tbc1d24-related disorders 10.1
5 malignant migrating partial seizures of infancy 10.1

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 16:



Diseases related to Epileptic Encephalopathy, Early Infantile, 16

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 16

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

59 32 (showing 29, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0007256
2 recurrent upper respiratory tract infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002788
3 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
4 dystonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001332
5 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
6 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
7 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
8 generalized myoclonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002123
9 epileptic encephalopathy 59 32 frequent (33%) Frequent (79-30%) HP:0200134
10 status epilepticus 59 32 frequent (33%) Frequent (79-30%) HP:0002133
11 generalized neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0008935
12 delayed cns myelination 59 32 frequent (33%) Frequent (79-30%) HP:0002188
13 eeg with irregular generalized spike and wave complexes 59 32 frequent (33%) Frequent (79-30%) HP:0001326
14 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
15 optic atrophy 59 32 occasional (7.5%) Very rare (<4-1%) HP:0000648
16 abnormality of extrapyramidal motor function 59 32 occasional (7.5%) Occasional (29-5%) HP:0002071
17 hemiplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002301
18 hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001269
19 diffuse cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002506
20 excessive daytime sleepiness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002189
21 diffuse cerebellar atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100275
22 poor visual behavior for age 59 32 occasional (7.5%) Occasional (29-5%) HP:0025152
23 generalized hypotonia 32 HP:0001290
24 visual loss 32 HP:0000572
25 severe muscular hypotonia 32 HP:0006829
26 cerebral atrophy 32 HP:0002059
27 postnatal microcephaly 32 HP:0005484
28 delayed myelination 32 HP:0012448
29 psychomotor retardation 32 HP:0025356

Symptoms via clinical synopsis from OMIM:

57
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

Drugs for Epileptic Encephalopathy, Early Infantile, 16 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 4, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 1
2 Immunologic Factors Phase 1
3 Senna Phase 1
4 Sennoside A&B Phase 1

Interventional clinical trials:

(showing 8, show less)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomised, Double Blind, Placebo-Controlled Study to Assess the Efficacy of a Trivalent (A/New Caledonia/20/99, A/Panama/2007/99, B/Jiangsu/10/20) DNA Influenza Vaccine Administered by Particle Mediated Epidermal Delivery (PMED) Against a Controlled Influenza Virus Challenge. Completed NCT00349037 Phase 1
2 A Randomised Double Blind Dose-Ranging Study to Assess the Safety, Tolerability and Immunogenicity of a Monovalent H5 DNA Influenza Vaccine (A Vietnam/1194/2004) Administered by Particle Mediated Epidermal Delivery (PMED) to Healthy Adults Completed NCT00347529 Phase 1
3 A Phase I Study Assessing Safety and Tolerability of a DNA Vaccine With a DNA Encoded Immunostimulator , Administered by Particle Mediated Epidermal Delivery Using the PowderMed ND10 Delivery System in HSV-2 Seronegative Healthy Volunteers Completed NCT00310271 Phase 1
4 A Phase I Study to Assess Safety, Tolerability and Immunogenicity of a Trivalent Influenza Vaccine Administered by Particle Mediated Epidermal Delivery (PMED) to Healthy Subjects Completed NCT00375206 Phase 1
5 Safety and Immunological Evaluation of NY-ESO-1 Plasmid DNA (pPJV7611) Cancer Vaccine Given by Particle-Mediated Epidermal Delivery (PMED) in Patients With Tumor Type Known to Express NY-ESO-1 or LAGE-1 Antigen. Completed NCT00199849 Phase 1
6 Injection of AJCC Stage IIB, IIC, III and IV Melanoma Patients With Mouse gp100 DNA: A Pilot Study to Compare Intramuscular Jet Injection With Particle Mediated Delivery Completed NCT00398073 Phase 1
7 A Phase I, Two-Center, Open-Label, Dose-Escalating Study to Investigate the Safety, Tolerability and Immunogenicity of pPJV7630, a Therapeutic DNA Vaccine for Herpes Simplex Virus Type 2 (HSV-2), in Patients With Recurrent Genital Herpes Caused by HSV-2 Completed NCT00274300 Phase 1
8 Phase I, Multi-Centre, Randomised, Placebo-Controlled, Dose Escalation Study to Assess Local & Systemic Tolerability of Therapeutic DNA Plasmid pdpSC18 Vaccine Administered by Particle Mediated Epidermal Delivery Using PowderJect ND10 Delivery System in Subjects With Chronic Hepatitis B Infection Completed NCT00277576 Phase 1

Search 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:

(showing 9, show less)
# Title Authors PMID Year
1
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. 8 71
23526554 2013
2
TBC1D24 truncating mutation resulting in severe neurodegeneration. 8 71
23343562 2013
3
Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. 8 71
21087195 2010
4
TBC1D24-Related Disorders 38 71
25719194 2015
5
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
6
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008
7
Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13. 8
10741954 2000
8
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16. 38
28726039 2017
9
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 38
28292732 2017

Variations for Epileptic Encephalopathy, Early Infantile, 16

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

6 (showing 9, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D24 NM_001199107.1(TBC1D24): c.969_970delGT (p.Ser324Thrfs) deletion Pathogenic rs398122941 16:2547714-2547715 16:2497713-2497714
2 TBC1D24 NM_001199107.2(TBC1D24): c.686T> C (p.Phe229Ser) single nucleotide variant Pathogenic rs397514713 16:2546835-2546835 16:2496834-2496834
3 TBC1D24 NM_001199107.2(TBC1D24): c.468C> A (p.Cys156Ter) single nucleotide variant Pathogenic rs397514714 16:2546617-2546617 16:2496616-2496616
4 TBC1D24 NM_001199107.2(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 16:2546873-2546873 16:2496872-2496872
5 TBC1D24 NM_001199107.2(TBC1D24): c.493G> A (p.Gly165Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200926225 16:2546642-2546642 16:2496641-2496641
6 TBC1D24 NM_001199107.2(TBC1D24): c.871G> A (p.Ala291Thr) single nucleotide variant Uncertain significance rs375307187 16:2547020-2547020 16:2497019-2497019
7 TBC1D24 NM_001199107.2(TBC1D24): c.878G> A (p.Arg293His) single nucleotide variant Uncertain significance rs199700840 16:2547027-2547027 16:2497026-2497026
8 TBC1D24 NM_001199107.2(TBC1D24): c.1253T> C (p.Phe418Ser) single nucleotide variant Uncertain significance rs776176742 16:2549882-2549882 16:2499881-2499881
9 TBC1D24 NM_001199107.2(TBC1D24): c.734T> C (p.Leu245Pro) single nucleotide variant Uncertain significance 16:2546883-2546883 16:2496882-2496882

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

74 (showing 3, show less)
# 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

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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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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