DEE16
MCID: DVL044
MIFTS: 38

Developmental and Epileptic Encephalopathy 16 (DEE16)

Categories: Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Developmental and Epileptic Encephalopathy 16

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 16:

Name: Developmental and Epileptic Encephalopathy 16 57 12
Early Infantile Epileptic Encephalopathy 16 12 29 6 15
Epileptic Encephalopathy, Early Infantile, 16 57 73
Eiee16 57 73
Dee16 57 12
Epileptic Encephalopathy, Early Infantile, 16; Eiee16 57
Encephalopathy, Epileptic, Early Infantile, Type 16 39
Progressive Myoclonic Epilepsy with Dystonia 58
Progressive Myoclonus Epilepsy with Dystonia 58
Pmed 58

Characteristics:

Orphanet epidemiological data:

58
progressive myoclonic epilepsy with dystonia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
developmental and epileptic encephalopathy 16:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Developmental and Epileptic Encephalopathy 16

OMIM® : 57 Developmental and epileptic encephalopathy-16 (DEE16) is a severe autosomal recessive neurologic disorder characterized by the 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 DEE, see 308350. (615338) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 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 Developmental and Epileptic Encephalopathy 16 is TBC1D24 (TBC1 Domain Family Member 24). The drug Vaccines has 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 A developmental and 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 : 73 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 Developmental and Epileptic Encephalopathy 16

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Diseases related to Developmental and Epileptic Encephalopathy 16 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of unverricht and lundborg 10.2
2 epilepsy 10.2
3 early myoclonic encephalopathy 10.2
4 dystonia 10.2
5 tbc1d24-related disorders 10.2
6 malignant migrating partial seizures of infancy 10.2
7 early infantile epileptic encephalopathy 10.1
8 encephalopathy 10.1
9 deafness, autosomal recessive 9 10.0 LRTOMT GJB2
10 deafness, autosomal recessive 93 10.0 LRTOMT GJB2
11 autosomal recessive nonsyndromic deafness 10.0 LRTOMT GJB2
12 autosomal recessive nonsyndromic deafness 3 10.0 LRTOMT GJB2
13 nonsyndromic deafness 9.9 LRTOMT GJB2
14 deafness, autosomal recessive 7 9.9 LRTOMT GJB2
15 deafness, autosomal recessive 21 9.9 LRTOMT GJB2
16 autosomal dominant nonsyndromic deafness 9.8 TBC1D24 GJB2
17 deafness, autosomal recessive 9.8 TBC1D24 LRTOMT GJB2
18 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 9.8 USP6 TBC1D24 CDC16
19 deafness, autosomal dominant 65 9.8 USP6 TBC1D24 CDC16
20 deafness, autosomal recessive 86 9.8 USP6 TBC1D24 CDC16
21 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 9.8 USP6 TBC1D24 CDC16
22 martsolf syndrome 9.8 USP6 TBC1D24 CDC16
23 sensorineural hearing loss 9.7 TBC1D24 LRTOMT GJB2
24 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 TBC1D24 LRTOMT GJB2

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 16:



Diseases related to Developmental and Epileptic Encephalopathy 16

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 16

Human phenotypes related to Developmental and Epileptic Encephalopathy 16:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
2 recurrent upper respiratory tract infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002788
3 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
4 dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001332
5 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
6 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
7 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
8 status epilepticus 58 31 frequent (33%) Frequent (79-30%) HP:0002133
9 generalized neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008935
10 epileptic encephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0200134
11 eeg with irregular generalized spike and wave complexes 58 31 frequent (33%) Frequent (79-30%) HP:0001326
12 delayed cns myelination 58 31 frequent (33%) Frequent (79-30%) HP:0002188
13 generalized myoclonic seizure 31 frequent (33%) HP:0002123
14 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
15 optic atrophy 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000648
16 abnormality of extrapyramidal motor function 58 31 occasional (7.5%) Occasional (29-5%) HP:0002071
17 hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001269
18 hemiplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002301
19 diffuse cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100275
20 diffuse cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002506
21 poor visual behavior for age 58 31 occasional (7.5%) Occasional (29-5%) HP:0025152
22 excessive daytime somnolence 31 occasional (7.5%) HP:0001262
23 generalized myoclonic seizures 58 Frequent (79-30%)
24 severe muscular hypotonia 31 HP:0006829
25 psychomotor retardation 31 HP:0025356
26 cerebral atrophy 31 HP:0002059
27 postnatal microcephaly 31 HP:0005484
28 visual loss 31 HP:0000572
29 generalized hypotonia 31 HP:0001290
30 excessive daytime sleepiness 58 Occasional (29-5%)
31 delayed myelination 31 HP:0012448

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 16:


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

GenomeRNAi Phenotypes related to Developmental and Epileptic Encephalopathy 16 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.28 SMAD9
2 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.28 AGFG1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.28 AGFG1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.28 AGFG1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.28 AGFG1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.28 SMAD9
7 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.28 AGFG1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.28 AGFG1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.28 SMAD9

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 16

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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

Search NIH Clinical Center for Developmental and Epileptic Encephalopathy 16

Genetic Tests for Developmental and Epileptic Encephalopathy 16

Genetic tests related to Developmental and Epileptic Encephalopathy 16:

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

Anatomical Context for Developmental and Epileptic Encephalopathy 16

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 16:

40
Eye

Publications for Developmental and Epileptic Encephalopathy 16

Articles related to Developmental and Epileptic Encephalopathy 16:

# Title Authors PMID Year
1
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. 6 57
23526554 2013
2
TBC1D24 truncating mutation resulting in severe neurodegeneration. 57 6
23343562 2013
3
Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. 6 57
21087195 2010
4
Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13. 57
10741954 2000
5
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16. 61
28726039 2020
6
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 61
28292732 2017
7
TBC1D24-Related Disorders 61
25719194 2015

Variations for Developmental and Epileptic Encephalopathy 16

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 16:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D24 NM_020705.3(TBC1D24):c.966-529GT[2] Microsatellite Pathogenic 56845 rs398122941 16:2547710-2547711 16:2497709-2497710
2 TBC1D24 NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) SNV Pathogenic 56846 rs397514713 16:2546835-2546835 16:2496834-2496834
3 TBC1D24 NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter) SNV Pathogenic 56847 rs397514714 16:2546617-2546617 16:2496616-2496616
4 TBC1D24 NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) SNV Likely pathogenic 91395 rs398122965 16:2546873-2546873 16:2496872-2496872
5 TBC1D24 NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg) SNV Likely pathogenic 242486 rs863224932 16:2549917-2549917 16:2499916-2499916
6 TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) SNV Likely pathogenic 207499 rs376712059 16:2546606-2546606 16:2496605-2496605
7 TBC1D24 NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) SNV Uncertain significance 207506 rs375307187 16:2547020-2547020 16:2497019-2497019
8 TBC1D24 NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) SNV Uncertain significance 207519 rs199700840 16:2547027-2547027 16:2497026-2497026
9 TBC1D24 NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) SNV Uncertain significance 626176 rs370477379 16:2546883-2546883 16:2496882-2496882
10 TBC1D24 NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) SNV Uncertain significance 207484 rs200926225 16:2546642-2546642 16:2496641-2496641
11 TBC1D24 NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) SNV Uncertain significance 207512 rs776176742 16:2549882-2549882 16:2499881-2499881

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 16:

73
# 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 Developmental and Epileptic Encephalopathy 16

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 16.

Pathways for Developmental and Epileptic Encephalopathy 16

GO Terms for Developmental and Epileptic Encephalopathy 16

Biological processes related to Developmental and Epileptic Encephalopathy 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.62 LRTOMT GJB2

Molecular functions related to Developmental and Epileptic Encephalopathy 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 8.8 USP6 TBC1D24 AGFG1

Sources for Developmental and Epileptic Encephalopathy 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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