FIME
MCID: MYC083
MIFTS: 41

Myoclonic Epilepsy, Familial Infantile (FIME)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myoclonic Epilepsy, Familial Infantile

MalaCards integrated aliases for Myoclonic Epilepsy, Familial Infantile:

Name: Myoclonic Epilepsy, Familial Infantile 57 29 6
Familial Infantile Myoclonic Epilepsy 58 72 36
Fime 57 58 72
Myoclonic Epilepsy, Infantile, Familial 57 13
Eim 57 72
Epilepsy, Myoclonic, Infantile, Familial 39
Familial Infantile Myoclonus Epilepsy 58
Epilepsy, Myoclonic, Infantile 70

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
two unrelated families have been reported (as of october 2010)
age of onset 2-8 months
one family had normal cognitive and neurologic development
a second family had mild intellectual disability
some patients have persistence of seizures to adulthood, but then show remission
good response to medication


HPO:

31
myoclonic epilepsy, familial infantile:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Myoclonic Epilepsy, Familial Infantile

KEGG : 36 Familial infantile myoclonic epilepsy (FIME) is a rare autosomal recessive idiopathic epilepsy. Idiopathic epilepsies are a group of disorders characterized by recurrent seizures in the absence of detectable brain lesions or metabolic abnormalities. Recently, mutations in TBC1D24, an ARF6-interacting protein, have been described as the cause of FIME. The main recognized function of ARF6 in the nervous system is the regulation of dendritic branching, spine formation, and axonal extension.

MalaCards based summary : Myoclonic Epilepsy, Familial Infantile, also known as familial infantile myoclonic epilepsy, is related to deafness, autosomal dominant 65 and deafness, autosomal recessive 86. An important gene associated with Myoclonic Epilepsy, Familial Infantile is TBC1D24 (TBC1 Domain Family Member 24). Affiliated tissues include cortex, brain and uterus, and related phenotypes are generalized myoclonic seizure and dysarthria

UniProtKB/Swiss-Prot : 72 Familial infantile myoclonic epilepsy: A subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic- clonic seizures.

More information from OMIM: 605021

Related Diseases for Myoclonic Epilepsy, Familial Infantile

Diseases in the Epilepsy, Myoclonic Juvenile family:

Epilepsy, Familial Adult Myoclonic, 1 Myoclonic Epilepsy, Familial Infantile
Epilepsy, Familial Adult Myoclonic, 2 Myoclonic Epilepsy, Juvenile 3
Myoclonic Epilepsy, Juvenile 4 Epilepsy, Progressive Myoclonic, 1b
Epilepsy, Familial Adult Myoclonic, 3 Epilepsy, Progressive Myoclonic, 6
Epilepsy, Juvenile Myoclonic 9 Epilepsy, Familial Adult Myoclonic, 4
Epilepsy, Familial Adult Myoclonic, 5 Epilepsy, Progressive Myoclonic 7
Epilepsy, Progressive Myoclonic, 8 Epilepsy, Progressive Myoclonic, 9
Epilepsy, Progressive Myoclonic, 10 Epilepsy, Juvenile Myoclonic 10
Epilepsy, Familial Adult Myoclonic, 6 Epilepsy, Familial Adult Myoclonic, 7
Epilepsy, Progressive Myoclonic, 11 Epilepsy, Progressive Myoclonic, 12
Familial Adult Myoclonic Epilepsy Epilepsy Progressive Myoclonic Type 3
Myoclonic Epilepsy of Infancy

Diseases related to Myoclonic Epilepsy, Familial Infantile via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 65 29.1 TBC1D24 CCNF
2 deafness, autosomal recessive 86 28.9 TBC1D24 CCNF
3 myoclonic epilepsy of infancy 11.0
4 tbc1d24-related disorders 10.2
5 tuberous sclerosis 10.1
6 amyotrophic lateral sclerosis 1 10.1
7 lateral sclerosis 10.1
8 alcohol dependence 9.9
9 breast cancer 9.9
10 frontotemporal dementia 9.9
11 thrombosis 9.9
12 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 9.9
13 developmental and epileptic encephalopathy 1 9.9
14 branchiootic syndrome 1 9.9
15 developmental and epileptic encephalopathy 16 9.9
16 alacrima, achalasia, and mental retardation syndrome 9.9
17 west syndrome 9.9
18 urinary tract infection 9.9
19 epilepsy 9.9
20 early myoclonic encephalopathy 9.9
21 malignant migrating partial seizures of infancy 9.9
22 myoclonus 9.9
23 seizure disorder 9.9
24 deafness-onychodystrophy syndrome 9.9
25 autosomal dominant non-syndromic sensorineural deafness type dfna 9.9
26 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9
27 rare genetic deafness 9.9

Graphical network of the top 20 diseases related to Myoclonic Epilepsy, Familial Infantile:



Diseases related to Myoclonic Epilepsy, Familial Infantile

Symptoms & Phenotypes for Myoclonic Epilepsy, Familial Infantile

Human phenotypes related to Myoclonic Epilepsy, Familial Infantile:

31 58 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized myoclonic seizure 31 hallmark (90%) HP:0002123
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
4 focal-onset seizure 58 31 frequent (33%) Frequent (79-30%) HP:0007359
5 thick cerebral cortex 58 31 frequent (33%) Frequent (79-30%) HP:0006891
6 eeg with focal spike waves 58 31 frequent (33%) Frequent (79-30%) HP:0011197
7 bilateral tonic-clonic seizure with generalized onset 31 frequent (33%) HP:0025190
8 simple febrile seizure 31 frequent (33%) HP:0011171
9 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
10 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
11 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
12 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
13 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
14 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
15 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
16 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
17 blepharospasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0000643
18 intellectual disability, borderline 58 31 occasional (7.5%) Occasional (29-5%) HP:0006889
19 clumsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002312
20 abnormal morphology of the hippocampus 58 31 occasional (7.5%) Occasional (29-5%) HP:0025100
21 limb myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0045084
22 periventricular nodular heterotopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0032388
23 seizures 58 Very frequent (99-80%)
24 generalized myoclonic seizures 58 Very frequent (99-80%)
25 generalized tonic-clonic seizures 58 Occasional (29-5%)
26 generalized tonic-clonic seizures without focal onset 58 Frequent (79-30%)
27 simple febrile seizures 58 Frequent (79-30%)
28 interictal eeg abnormality 58 Frequent (79-30%)
29 bilateral tonic-clonic seizure 31 HP:0002069
30 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
generalized tonic-clonic seizures
febrile seizures
focal seizures
delayed motor and speech development, mild (1 family)
myoclonic seizures, frequent, long-lasting (many hours)
more

Clinical features from OMIM®:

605021 (Updated 05-Apr-2021)

Drugs & Therapeutics for Myoclonic Epilepsy, Familial Infantile

Search Clinical Trials , NIH Clinical Center for Myoclonic Epilepsy, Familial Infantile

Genetic Tests for Myoclonic Epilepsy, Familial Infantile

Genetic tests related to Myoclonic Epilepsy, Familial Infantile:

# Genetic test Affiliating Genes
1 Myoclonic Epilepsy, Familial Infantile 29 TBC1D24

Anatomical Context for Myoclonic Epilepsy, Familial Infantile

MalaCards organs/tissues related to Myoclonic Epilepsy, Familial Infantile:

40
Cortex, Brain, Uterus, Endothelial

Publications for Myoclonic Epilepsy, Familial Infantile

Articles related to Myoclonic Epilepsy, Familial Infantile:

(show top 50) (show all 121)
# Title Authors PMID Year
1
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. 61 6 57
20727515 2010
2
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. 57 6
20797691 2010
3
Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13. 57 6
10741954 2000
4
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 6 61
28292732 2017
5
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 61 6
25769375 2015
6
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 6
28428906 2017
7
TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation. 57
23517570 2013
8
Reciprocal Packaging of the Main Structural Proteins of Type 1 Fimbriae and Flagella in the Outer Membrane Vesicles of "Wild Type" Escherichia coli Strains. 61
33643229 2021
9
Differences in phenotypic and genetic characteristics of Trueperella pyogenes detected in slaughtered cattle and pigs with septicemia. 61
32213728 2020
10
Phenotypic and molecular characterization of antimicrobial resistance in Trueperella pyogenes strains isolated from bovine mastitis and metritis. 61
31881834 2019
11
Antimicrobial resistance and presence of virulence factor genes in Trueperella pyogenes isolated from pig lungs with pneumonia. 61
31104226 2019
12
Genomic characterisation, detection of genes encoding virulence factors and evaluation of antibiotic resistance of Trueperella pyogenes isolated from cattle with clinical metritis. 61
30066209 2018
13
A HEADACHE FROM OUR PAST? INTRACRANIAL ABSCESS DISEASE, VIRULENCE FACTORS OF TRUEPERELLA PYOGENES, AND A LEGACY OF TRANSLOCATING WHITE-TAILED DEER ( ODOCOILEUS VIRGINIANUS). 61
29878877 2018
14
Screening and selection of artificial riboswitches. 61
29778645 2018
15
Phenotypic and genotypic characteristics of Trueperella pyogenes isolated from ruminants. 61
29528808 2018
16
Escherichia coli cultures maintain stable subpopulation structure during long-term evolution. 61
29712844 2018
17
Trueperella pyogenes isolated from a brain abscess of an adult roebuck (Capreolus capreolus). 61
28534230 2018
18
Differential Regulation of Escherichia coli fim Genes following Binding to Mannose Receptors. 61
29951317 2018
19
Virulence markers associated with Trueperella pyogenes infections in livestock and companion animals. 61
28561264 2017
20
Riboswitch-Based Reversible Dual Color Sensor. 61
28121427 2017
21
Bovine Endometrial Epithelial Cells Scale Their Pro-inflammatory Response In vitro to Pathogenic Trueperella pyogenes Isolated from the Bovine Uterus in a Strain-Specific Manner. 61
28680854 2017
22
Temporal Regulation of fim Genes in Uropathogenic Escherichia coli during Infection of the Murine Urinary Tract. 61
29445547 2017
23
Complete Genome Sequence of Trueperella pyogenes, Isolated from Infected Farmland Goats. 61
27979957 2016
24
Comprehensive analysis of type 1 fimbriae regulation in fimB-null strains from the multidrug resistant Escherichia coli ST131 clone. 61
27309594 2016
25
[Visual Priming and Perception of the Small Pictures in Scene with Multiscale Objects.] 61
29932548 2016
26
Identification of fimbrial subunits in the genome of Trueperella pyogenes and association between serum antibodies against fimbrial proteins and uterine conditions in dairy cows. 61
26947291 2016
27
Memory and Combinatorial Logic Based on DNA Inversions: Dynamics and Evolutionary Stability. 61
26548807 2015
28
Isolation and genotypic characterization of Trueperella (Arcanobacterium) pyogenes recovered from active cranial abscess infections of male white-tailed deer (Odocoileus virginianus). 61
25831577 2015
29
Fimbriae-mediated outer membrane vesicle production and invasion of Porphyromonas gingivalis. 61
25524808 2015
30
TBC1D24-Related Disorders 61
25719194 2015
31
Permanent genetic memory with >1-byte capacity. 61
25344638 2014
32
Identification of bacterial factors involved in type 1 fimbria expression using an Escherichia coli K12 proteome chip. 61
24692643 2014
33
RfaH suppresses small RNA MicA inhibition of fimB expression in Escherichia coli K-12. 61
24163336 2014
34
Type 1 fimbriae in commensal Escherichia coli derived from healthy humans. 61
24851235 2014
35
[Construction of recombinant for generation of Porphyromonas gingivalis minor accessory proteins FimCDE deficient strain]. 61
24469122 2013
36
OmpR regulation of the uropathogenic Escherichia coli fimB gene in an acidic/high osmolality environment. 61
23175504 2013
37
Pleiotropic roles of uvrY on biofilm formation, motility and virulence in uropathogenic Escherichia coli CFT073. 61
23383333 2013
38
[FimA fimbriae of the periodontal disease-associated bacterium Porphyromonas gingivalis]. 61
23995804 2013
39
Genotypic characterization and evaluation of an antibiotic resistance of Trueperella pyogenes (Arcanobacterium pyogenes) isolated from milk of dairy cows with clinical mastitis. 61
22868181 2012
40
Trueperella pyogenes as cause of a facial abscess in a grey slender loris (Loris lydekkerianus nordicus)--a case report. 61
23045803 2012
41
Decreased expression of type 1 fimbriae by a pst mutant of uropathogenic Escherichia coli reduces urinary tract infection. 61
22665376 2012
42
Regulation of fim genes in uropathogenic Escherichia coli. 61
23638406 2011
43
Flexible spectral imaging color enhancement (FICE) is useful to discriminate among non-neoplastic lesion, adenoma, and cancer of stomach. 61
21800158 2011
44
Construction of a genetic multiplexer to toggle between chemosensory pathways in Escherichia coli. 61
21185306 2011
45
Role of decreased levels of Fis histone-like protein in Crohn's disease-associated adherent invasive Escherichia coli LF82 bacteria interacting with intestinal epithelial cells. 61
20118249 2010
46
Temperature control of fimbriation circuit switch in uropathogenic Escherichia coli: quantitative analysis via automated model abstraction. 61
20361050 2010
47
Host adhesive activities and virulence of novel fimbrial proteins of Porphyromonas gingivalis. 61
19506009 2009
48
Familial benign nonprogressive myoclonic epilepsies. 61
19469844 2009
49
IscR controls iron-dependent biofilm formation in Escherichia coli by regulating type I fimbria expression. 61
19074392 2009
50
Genomic characterization of Arcanobacterium pyogenes isolates recovered from the uterus of dairy cows with normal puerperium or clinical metritis. 61
18547748 2008

Variations for Myoclonic Epilepsy, Familial Infantile

ClinVar genetic disease variations for Myoclonic Epilepsy, Familial Infantile:

6 (show top 50) (show all 203)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBC1D24 NM_001199107.2(TBC1D24):c.476T>C (p.Leu159Pro) SNV Pathogenic 242533 rs863223337 GRCh37: 16:2546625-2546625
GRCh38: 16:2496624-2496624
2 TBC1D24 NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) SNV Pathogenic 48 rs267607103 GRCh37: 16:2546588-2546588
GRCh38: 16:2496587-2496587
3 TBC1D24 NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) SNV Pathogenic 49 rs267607105 GRCh37: 16:2550823-2550823
GRCh38: 16:2500822-2500822
4 TBC1D24 NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu) SNV Pathogenic 50 rs267607104 GRCh37: 16:2546900-2546900
GRCh38: 16:2496899-2496899
5 TBC1D24 NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) SNV Likely pathogenic 436948 rs748759187 GRCh37: 16:2547015-2547015
GRCh38: 16:2497014-2497014
6 TBC1D24 NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg) SNV Likely pathogenic 242486 rs863224932 GRCh37: 16:2549917-2549917
GRCh38: 16:2499916-2499916
7 TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) SNV Likely pathogenic 207499 rs376712059 GRCh37: 16:2546606-2546606
GRCh38: 16:2496605-2496605
8 TBC1D24 NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) SNV Likely pathogenic 436947 rs545689324 GRCh37: 16:2546958-2546958
GRCh38: 16:2496957-2496957
9 TBC1D24 NM_001199107.2(TBC1D24):c.244G>A (p.Val82Met) SNV Uncertain significance 887419 GRCh37: 16:2546393-2546393
GRCh38: 16:2496392-2496392
10 TBC1D24 NM_001199107.2(TBC1D24):c.331G>A (p.Glu111Lys) SNV Uncertain significance 661860 rs773211471 GRCh37: 16:2546480-2546480
GRCh38: 16:2496479-2496479
11 TBC1D24 NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) SNV Uncertain significance 227980 rs78644690 GRCh37: 16:2550849-2550849
GRCh38: 16:2500848-2500848
12 TBC1D24 NM_001199107.2(TBC1D24):c.*65G>A SNV Uncertain significance 887664 GRCh37: 16:2551024-2551024
GRCh38: 16:2501023-2501023
13 TBC1D24 NM_001199107.2(TBC1D24):c.*883G>A SNV Uncertain significance 887722 GRCh37: 16:2551842-2551842
GRCh38: 16:2501841-2501841
14 TBC1D24 NM_001199107.2(TBC1D24):c.*1062G>A SNV Uncertain significance 887723 GRCh37: 16:2552021-2552021
GRCh38: 16:2502020-2502020
15 TBC1D24 NM_001199107.2(TBC1D24):c.*1089G>A SNV Uncertain significance 887724 GRCh37: 16:2552048-2552048
GRCh38: 16:2502047-2502047
16 TBC1D24 NM_001199107.2(TBC1D24):c.*1192C>T SNV Uncertain significance 887725 GRCh37: 16:2552151-2552151
GRCh38: 16:2502150-2502150
17 TBC1D24 NM_001199107.2(TBC1D24):c.*2220G>A SNV Uncertain significance 887786 GRCh37: 16:2553179-2553179
GRCh38: 16:2503178-2503178
18 TBC1D24 NM_001199107.2(TBC1D24):c.*2527T>A SNV Uncertain significance 887787 GRCh37: 16:2553486-2553486
GRCh38: 16:2503485-2503485
19 TBC1D24 NM_001199107.2(TBC1D24):c.*2573T>A SNV Uncertain significance 887788 GRCh37: 16:2553532-2553532
GRCh38: 16:2503531-2503531
20 TBC1D24 NM_001199107.2(TBC1D24):c.*2625T>G SNV Uncertain significance 887789 GRCh37: 16:2553584-2553584
GRCh38: 16:2503583-2503583
21 TBC1D24 NM_001199107.2(TBC1D24):c.*3651T>C SNV Uncertain significance 887857 GRCh37: 16:2554610-2554610
GRCh38: 16:2504609-2504609
22 TBC1D24 NM_001199107.2(TBC1D24):c.*3662C>T SNV Uncertain significance 887858 GRCh37: 16:2554621-2554621
GRCh38: 16:2504620-2504620
23 TBC1D24 NM_001199107.2(TBC1D24):c.*3663G>A SNV Uncertain significance 887859 GRCh37: 16:2554622-2554622
GRCh38: 16:2504621-2504621
24 TBC1D24 NM_001199107.2(TBC1D24):c.-4C>T SNV Uncertain significance 195133 rs202124579 GRCh37: 16:2546146-2546146
GRCh38: 16:2496145-2496145
25 TBC1D24 NM_001199107.2(TBC1D24):c.*1436G>A SNV Uncertain significance 884581 GRCh37: 16:2552395-2552395
GRCh38: 16:2502394-2502394
26 TBC1D24 NM_001199107.2(TBC1D24):c.*1622G>A SNV Uncertain significance 884582 GRCh37: 16:2552581-2552581
GRCh38: 16:2502580-2502580
27 TBC1D24 NM_001199107.2(TBC1D24):c.*1623G>A SNV Uncertain significance 884583 GRCh37: 16:2552582-2552582
GRCh38: 16:2502581-2502581
28 TBC1D24 NM_001199107.2(TBC1D24):c.*2710G>A SNV Uncertain significance 884641 GRCh37: 16:2553669-2553669
GRCh38: 16:2503668-2503668
29 TBC1D24 NM_001199107.2(TBC1D24):c.*2852T>G SNV Uncertain significance 884642 GRCh37: 16:2553811-2553811
GRCh38: 16:2503810-2503810
30 TBC1D24 NM_001199107.2(TBC1D24):c.*4059G>A SNV Uncertain significance 884707 GRCh37: 16:2555018-2555018
GRCh38: 16:2505017-2505017
31 TBC1D24 NM_001199107.2(TBC1D24):c.*3243C>T SNV Uncertain significance 885582 GRCh37: 16:2554202-2554202
GRCh38: 16:2504201-2504201
32 TBC1D24 NM_001199107.2(TBC1D24):c.*4306T>C SNV Uncertain significance 885648 GRCh37: 16:2555265-2555265
GRCh38: 16:2505264-2505264
33 TBC1D24 NM_001199107.2(TBC1D24):c.-46C>T SNV Uncertain significance 886414 GRCh37: 16:2546104-2546104
GRCh38: 16:2496103-2496103
34 TBC1D24 NM_001199107.2(TBC1D24):c.*781G>A SNV Uncertain significance 886473 GRCh37: 16:2551740-2551740
GRCh38: 16:2501739-2501739
35 TBC1D24 NM_001199107.2(TBC1D24):c.*1894C>T SNV Uncertain significance 886537 GRCh37: 16:2552853-2552853
GRCh38: 16:2502852-2502852
36 TBC1D24 NM_001199107.2(TBC1D24):c.*3448G>A SNV Uncertain significance 886607 GRCh37: 16:2554407-2554407
GRCh38: 16:2504406-2504406
37 TBC1D24 NM_001199107.2(TBC1D24):c.*3613A>G SNV Uncertain significance 886608 GRCh37: 16:2554572-2554572
GRCh38: 16:2504571-2504571
38 TBC1D24 NM_001199107.2(TBC1D24):c.*4629G>C SNV Uncertain significance 886657 GRCh37: 16:2555588-2555588
GRCh38: 16:2505587-2505587
39 TBC1D24 NM_001199107.2(TBC1D24):c.*4685C>T SNV Uncertain significance 886659 GRCh37: 16:2555644-2555644
GRCh38: 16:2505643-2505643
40 TBC1D24 NM_001199107.2(TBC1D24):c.*4699T>G SNV Uncertain significance 886660 GRCh37: 16:2555658-2555658
GRCh38: 16:2505657-2505657
41 TBC1D24 NM_001199107.2(TBC1D24):c.1482C>T (p.Thr494=) SNV Uncertain significance 887471 GRCh37: 16:2550448-2550448
GRCh38: 16:2500447-2500447
42 TBC1D24 NM_001199107.2(TBC1D24):c.*2985T>C SNV Uncertain significance 318679 rs372477976 GRCh37: 16:2553944-2553944
GRCh38: 16:2503943-2503943
43 TBC1D24 NM_001199107.2(TBC1D24):c.145G>A (p.Ala49Thr) SNV Uncertain significance 318611 rs758665573 GRCh37: 16:2546294-2546294
GRCh38: 16:2496293-2496293
44 TBC1D24 NM_001199107.2(TBC1D24):c.*3309T>C SNV Uncertain significance 318682 rs563435346 GRCh37: 16:2554268-2554268
GRCh38: 16:2504267-2504267
45 TBC1D24 NM_001199107.2(TBC1D24):c.*826C>T SNV Uncertain significance 318636 rs527744116 GRCh37: 16:2551785-2551785
GRCh38: 16:2501784-2501784
46 TBC1D24 NM_001199107.2(TBC1D24):c.*1123C>T SNV Uncertain significance 318639 rs886051853 GRCh37: 16:2552082-2552082
GRCh38: 16:2502081-2502081
47 TBC1D24 NM_001199107.2(TBC1D24):c.*4128G>A SNV Uncertain significance 318702 rs530237752 GRCh37: 16:2555087-2555087
GRCh38: 16:2505086-2505086
48 TBC1D24 NM_001199107.2(TBC1D24):c.*4706A>G SNV Uncertain significance 318708 rs77103420 GRCh37: 16:2555665-2555665
GRCh38: 16:2505664-2505664
49 TBC1D24 NM_001199107.2(TBC1D24):c.*1793C>T SNV Uncertain significance 318651 rs190646700 GRCh37: 16:2552752-2552752
GRCh38: 16:2502751-2502751
50 TBC1D24 NM_001199107.2(TBC1D24):c.*3709C>T SNV Uncertain significance 318691 rs563088852 GRCh37: 16:2554668-2554668
GRCh38: 16:2504667-2504667

UniProtKB/Swiss-Prot genetic disease variations for Myoclonic Epilepsy, Familial Infantile:

72
# Symbol AA change Variation ID SNP ID
1 TBC1D24 p.Asp147His VAR_064365 rs267607103
2 TBC1D24 p.Phe251Leu VAR_064366 rs267607104
3 TBC1D24 p.Ala515Val VAR_064367 rs267607105

Expression for Myoclonic Epilepsy, Familial Infantile

Search GEO for disease gene expression data for Myoclonic Epilepsy, Familial Infantile.

Pathways for Myoclonic Epilepsy, Familial Infantile

GO Terms for Myoclonic Epilepsy, Familial Infantile

Cellular components related to Myoclonic Epilepsy, Familial Infantile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 presynapse GO:0098793 9.16 TBC1D24 CPLX1
2 cell junction GO:0030054 9.13 TBC1D24 CPLX1 CCNF
3 terminal bouton GO:0043195 8.62 TBC1D24 CPLX1

Sources for Myoclonic Epilepsy, Familial Infantile

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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