MCID: MYC083
MIFTS: 30

Myoclonic Epilepsy, Familial Infantile

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

Aliases & Classifications for Myoclonic Epilepsy, Familial Infantile

MalaCards integrated aliases for Myoclonic Epilepsy, Familial Infantile:

Name: Myoclonic Epilepsy, Familial Infantile 57 29 6
Fime 57 59 75
Myoclonic Epilepsy, Infantile, Familial 57 13
Familial Infantile Myoclonic Epilepsy 59 75
Eim 57 75
Epilepsy, Myoclonic, Infantile, Familial 40
Familial Infantile Myoclonus Epilepsy 59
Epilepsy, Myoclonic, Infantile 73

Characteristics:

Orphanet epidemiological data:

59
familial infantile myoclonic epilepsy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
myoclonic epilepsy, familial infantile:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Myoclonic Epilepsy, Familial Infantile

UniProtKB/Swiss-Prot : 75 Familial infantile myoclonic epilepsy: A subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic- clonic seizures.

MalaCards based summary : Myoclonic Epilepsy, Familial Infantile, also known as fime, is related to myoclonic epilepsy of infancy and fabry disease. An important gene associated with Myoclonic Epilepsy, Familial Infantile is TBC1D24 (TBC1 Domain Family Member 24). Affiliated tissues include brain, and related phenotypes are eeg with irregular generalized spike and wave complexes and generalized tonic-clonic seizures

Description from OMIM: 605021

Related Diseases for Myoclonic Epilepsy, Familial Infantile

Symptoms & Phenotypes for Myoclonic Epilepsy, Familial Infantile

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Myoclonic Epilepsy, Familial Infantile:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg with irregular generalized spike and wave complexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001326
2 generalized tonic-clonic seizures 59 32 Very frequent (99-80%) HP:0002069
3 generalized myoclonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002123
4 aggressive behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000718
5 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
6 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
7 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
8 mental deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0001268
9 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
10 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
11 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
12 leber optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001112
13 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
14 absence seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002121
15 febrile seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002373
16 language impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002463
17 photosensitive tonic-clonic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0007207
18 delayed fine motor development 59 32 occasional (7.5%) Occasional (29-5%) HP:0010862
19 focal seizures 32 HP:0007359

GenomeRNAi Phenotypes related to Myoclonic Epilepsy, Familial Infantile according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased IL-8 secretion GR00386-A-2 8.62 CPLX1 TBC1D24

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:

41
Brain

Publications for Myoclonic Epilepsy, Familial Infantile

Articles related to Myoclonic Epilepsy, Familial Infantile:

# Title Authors Year
1
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. ( 25769375 )
2015
2
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. ( 20727515 )
2010
3
Familial infantile myoclonic epilepsy: clinical features in a large kindred with autosomal recessive inheritance. ( 11879364 )
2001
4
Familial infantile myoclonic epilepsy in a family suffering from tuberous sclerosis. ( 5247002 )
1968

Variations for Myoclonic Epilepsy, Familial Infantile

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

75
# 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

ClinVar genetic disease variations for Myoclonic Epilepsy, Familial Infantile:

6
(show top 50) (show all 232)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBC1D24 NM_001199107.1(TBC1D24): c.439G> C (p.Asp147His) single nucleotide variant Pathogenic rs267607103 GRCh37 Chromosome 16, 2546588: 2546588
2 TBC1D24 NM_001199107.1(TBC1D24): c.439G> C (p.Asp147His) single nucleotide variant Pathogenic rs267607103 GRCh38 Chromosome 16, 2496587: 2496587
3 TBC1D24 NM_001199107.1(TBC1D24): c.751T> C (p.Phe251Leu) single nucleotide variant Pathogenic rs267607104 GRCh37 Chromosome 16, 2546900: 2546900
4 TBC1D24 NM_001199107.1(TBC1D24): c.751T> C (p.Phe251Leu) single nucleotide variant Pathogenic rs267607104 GRCh38 Chromosome 16, 2496899: 2496899
5 TBC1D24 NM_020705.2(TBC1D24): c.-4C> T single nucleotide variant Uncertain significance rs202124579 GRCh37 Chromosome 16, 2546146: 2546146
6 TBC1D24 NM_020705.2(TBC1D24): c.-4C> T single nucleotide variant Uncertain significance rs202124579 GRCh38 Chromosome 16, 2496145: 2496145
7 TBC1D24 NM_020705.2(TBC1D24): c.22T> C (p.Cys8Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77585883 GRCh37 Chromosome 16, 2546171: 2546171
8 TBC1D24 NM_020705.2(TBC1D24): c.22T> C (p.Cys8Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77585883 GRCh38 Chromosome 16, 2496170: 2496170
9 TBC1D24 NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202162520 GRCh37 Chromosome 16, 2546318: 2546318
10 TBC1D24 NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202162520 GRCh38 Chromosome 16, 2496317: 2496317
11 TBC1D24 NM_001199107.1(TBC1D24): c.702G> A (p.Val234=) single nucleotide variant Conflicting interpretations of pathogenicity rs188739853 GRCh37 Chromosome 16, 2546851: 2546851
12 TBC1D24 NM_001199107.1(TBC1D24): c.702G> A (p.Val234=) single nucleotide variant Conflicting interpretations of pathogenicity rs188739853 GRCh38 Chromosome 16, 2496850: 2496850
13 TBC1D24 NM_001199107.1(TBC1D24): c.951C> T (p.Thr317=) single nucleotide variant Conflicting interpretations of pathogenicity rs766745103 GRCh38 Chromosome 16, 2497099: 2497099
14 TBC1D24 NM_001199107.1(TBC1D24): c.951C> T (p.Thr317=) single nucleotide variant Conflicting interpretations of pathogenicity rs766745103 GRCh37 Chromosome 16, 2547100: 2547100
15 TBC1D24 NM_020705.2(TBC1D24): c.338C> A (p.Ala113Asp) single nucleotide variant no interpretation for the single variant rs770820144 GRCh38 Chromosome 16, 2496486: 2496486
16 TBC1D24 NM_020705.2(TBC1D24): c.338C> A (p.Ala113Asp) single nucleotide variant no interpretation for the single variant rs770820144 GRCh37 Chromosome 16, 2546487: 2546487
17 TBC1D24 NM_020705.2(TBC1D24): c.476T> C (p.Leu159Pro) single nucleotide variant no interpretation for the single variant rs863223337 GRCh37 Chromosome 16, 2546625: 2546625
18 TBC1D24 NM_020705.2(TBC1D24): c.476T> C (p.Leu159Pro) single nucleotide variant no interpretation for the single variant rs863223337 GRCh38 Chromosome 16, 2496624: 2496624
19 TBC1D24 NM_020705.2(TBC1D24): c.1218G> C (p.Trp406Cys) single nucleotide variant no interpretation for the single variant rs863224931 GRCh38 Chromosome 16, 2499864: 2499864
20 TBC1D24 NM_020705.2(TBC1D24): c.1218G> C (p.Trp406Cys) single nucleotide variant no interpretation for the single variant rs863224931 GRCh37 Chromosome 16, 2549865: 2549865
21 TBC1D24 NM_020705.2(TBC1D24): c.1270T> C (p.Cys424Arg) single nucleotide variant no interpretation for the single variant rs863224932 GRCh37 Chromosome 16, 2549917: 2549917
22 TBC1D24 NM_020705.2(TBC1D24): c.1270T> C (p.Cys424Arg) single nucleotide variant no interpretation for the single variant rs863224932 GRCh38 Chromosome 16, 2499916: 2499916
23 TBC1D24 NM_020705.2(TBC1D24): c.1449C> T (p.Asn483=) single nucleotide variant Conflicting interpretations of pathogenicity rs779963634 GRCh38 Chromosome 16, 2500432: 2500432
24 TBC1D24 NM_020705.2(TBC1D24): c.1449C> T (p.Asn483=) single nucleotide variant Conflicting interpretations of pathogenicity rs779963634 GRCh37 Chromosome 16, 2550433: 2550433
25 TBC1D24 NM_020705.2(TBC1D24): c.-36G> A single nucleotide variant Uncertain significance rs754720137 GRCh38 Chromosome 16, 2496113: 2496113
26 TBC1D24 NM_020705.2(TBC1D24): c.-36G> A single nucleotide variant Uncertain significance rs754720137 GRCh37 Chromosome 16, 2546114: 2546114
27 TBC1D24 NM_020705.2(TBC1D24): c.232G> A (p.Val78Met) single nucleotide variant Uncertain significance rs776539630 GRCh38 Chromosome 16, 2496380: 2496380
28 TBC1D24 NM_020705.2(TBC1D24): c.232G> A (p.Val78Met) single nucleotide variant Uncertain significance rs776539630 GRCh37 Chromosome 16, 2546381: 2546381
29 TBC1D24 NM_020705.2(TBC1D24): c.1323C> T (p.Ile441=) single nucleotide variant Uncertain significance rs372317366 GRCh38 Chromosome 16, 2500306: 2500306
30 TBC1D24 NM_020705.2(TBC1D24): c.1323C> T (p.Ile441=) single nucleotide variant Uncertain significance rs372317366 GRCh37 Chromosome 16, 2550307: 2550307
31 TBC1D24 NM_020705.2(TBC1D24): c.*188C> T single nucleotide variant Likely benign rs62040717 GRCh38 Chromosome 16, 2501146: 2501146
32 TBC1D24 NM_020705.2(TBC1D24): c.*188C> T single nucleotide variant Likely benign rs62040717 GRCh37 Chromosome 16, 2551147: 2551147
33 TBC1D24 NM_020705.2(TBC1D24): c.*366A> T single nucleotide variant Uncertain significance rs375446781 GRCh38 Chromosome 16, 2501324: 2501324
34 TBC1D24 NM_020705.2(TBC1D24): c.*366A> T single nucleotide variant Uncertain significance rs375446781 GRCh37 Chromosome 16, 2551325: 2551325
35 TBC1D24 NM_020705.2(TBC1D24): c.*528C> T single nucleotide variant Uncertain significance rs886051850 GRCh38 Chromosome 16, 2501486: 2501486
36 TBC1D24 NM_020705.2(TBC1D24): c.*528C> T single nucleotide variant Uncertain significance rs886051850 GRCh37 Chromosome 16, 2551487: 2551487
37 TBC1D24 NM_020705.2(TBC1D24): c.*559G> A single nucleotide variant Uncertain significance rs540508501 GRCh38 Chromosome 16, 2501517: 2501517
38 TBC1D24 NM_020705.2(TBC1D24): c.*559G> A single nucleotide variant Uncertain significance rs540508501 GRCh37 Chromosome 16, 2551518: 2551518
39 TBC1D24 NM_020705.2(TBC1D24): c.*732A> G single nucleotide variant Likely benign rs4075481 GRCh38 Chromosome 16, 2501690: 2501690
40 TBC1D24 NM_020705.2(TBC1D24): c.*732A> G single nucleotide variant Likely benign rs4075481 GRCh37 Chromosome 16, 2551691: 2551691
41 TBC1D24 NM_020705.2(TBC1D24): c.*807G> A single nucleotide variant Uncertain significance rs374953419 GRCh38 Chromosome 16, 2501765: 2501765
42 TBC1D24 NM_020705.2(TBC1D24): c.*807G> A single nucleotide variant Uncertain significance rs374953419 GRCh37 Chromosome 16, 2551766: 2551766
43 TBC1D24 NM_020705.2(TBC1D24): c.*836C> T single nucleotide variant Likely benign rs4075480 GRCh38 Chromosome 16, 2501794: 2501794
44 TBC1D24 NM_020705.2(TBC1D24): c.*836C> T single nucleotide variant Likely benign rs4075480 GRCh37 Chromosome 16, 2551795: 2551795
45 TBC1D24 NM_020705.2(TBC1D24): c.*871G> A single nucleotide variant Uncertain significance rs886051852 GRCh38 Chromosome 16, 2501829: 2501829
46 TBC1D24 NM_020705.2(TBC1D24): c.*871G> A single nucleotide variant Uncertain significance rs886051852 GRCh37 Chromosome 16, 2551830: 2551830
47 TBC1D24 NM_020705.2(TBC1D24): c.*1123C> T single nucleotide variant Uncertain significance rs886051853 GRCh37 Chromosome 16, 2552082: 2552082
48 TBC1D24 NM_020705.2(TBC1D24): c.*1123C> T single nucleotide variant Uncertain significance rs886051853 GRCh38 Chromosome 16, 2502081: 2502081
49 TBC1D24 NM_020705.2(TBC1D24): c.*1160G> A single nucleotide variant Likely benign rs7201970 GRCh38 Chromosome 16, 2502118: 2502118
50 TBC1D24 NM_020705.2(TBC1D24): c.*1160G> A single nucleotide variant Likely benign rs7201970 GRCh37 Chromosome 16, 2552119: 2552119

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 terminal bouton GO:0043195 8.62 CPLX1 TBC1D24

Sources for Myoclonic Epilepsy, Familial Infantile

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