FAM
MCID: FML363
MIFTS: 41

Familial Adult Myoclonic Epilepsy (FAM)

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

Aliases & Classifications for Familial Adult Myoclonic Epilepsy

MalaCards integrated aliases for Familial Adult Myoclonic Epilepsy:

Name: Familial Adult Myoclonic Epilepsy 12 58 36 15
Familial Cortical Myoclonic Tremor and Epilepsy 12 58
Benign Adult Familial Myoclonic Epilepsy 12 58
Benign Adult Familial Myoclonus Epilepsy 12 58
Bafme 12 58
Fcmte 12 58
Fame 12 58
Autosomal Dominant Cortical Myoclonus and Epilepsy 58
Epilepsy, Myoclonic, Familial Adult 39
Adcme 58
Fam 74

Characteristics:

Orphanet epidemiological data:

58
benign adult familial myoclonic epilepsy
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: elderly;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111689
KEGG 36 H02213
SNOMED-CT 67 717225001
ICD10 via Orphanet 33 G40.3
Orphanet 58 ORPHA86814
UMLS 71 C4273988

Summaries for Familial Adult Myoclonic Epilepsy

KEGG : 36 Familial adult myoclonic epilepsy (FAME), also known as benign adult familial myoclonic epilepsy (BAFME), is an autosomal dominant disorder characterized by adult-onset tremulous hand movement, infrequent epileptic seizure and non-progressive course without cerebellar ataxia and dementia. It has been suggested that abnormal expansions of TTTCA and TTTTA repeats in introns of SAMD12, TNRC6A and RAPGEF2 cause this disease. Recently, Autosomal recessive form with a mutation in CNTN2 gene has been reported.

MalaCards based summary : Familial Adult Myoclonic Epilepsy, also known as familial cortical myoclonic tremor and epilepsy, is related to epilepsy, familial adult myoclonic, 4 and epilepsy, familial adult myoclonic, 5. An important gene associated with Familial Adult Myoclonic Epilepsy is MARCHF6 (Membrane Associated Ring-CH-Type Finger 6). The drugs Adenosine and Fluocinolone Acetonide have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and lung, and related phenotypes are eeg abnormality and myoclonus

Disease Ontology : 12 An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities.

Related Diseases for Familial Adult Myoclonic Epilepsy

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 Familial Adult Myoclonic Epilepsy
Epilepsy Progressive Myoclonic Type 3 Myoclonic Epilepsy of Infancy

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

(show top 50) (show all 143)
# Related Disease Score Top Affiliating Genes
1 epilepsy, familial adult myoclonic, 4 33.6 YEATS2 CTNND2 ACMSD
2 epilepsy, familial adult myoclonic, 5 33.5 CTNND2 CNTN2 ADRA2B ACMSD
3 epilepsy, familial adult myoclonic, 3 33.5 SAMD12 PPP1R3F MTARC2 MARCHF6 CTNND2 ADRA2B
4 epilepsy, familial adult myoclonic, 1 33.4 YEATS2 TNRC6A STARD7 SAMD12 RAPGEF2 MARCHF6
5 epilepsy, familial adult myoclonic, 7 33.3 YEATS2 TNRC6A STARD7 SAMD12 RAPGEF2 MARCHF6
6 epilepsy, familial adult myoclonic, 6 33.3 YEATS2 TNRC6A STARD7 SAMD12 RAPGEF2 MARCHF6
7 epilepsy, familial adult myoclonic, 2 32.9 YEATS2 STARD7 SAMD12 RAPGEF2 PPP1R3F MTARC2
8 epilepsy 30.6 YEATS2 TNRC6A SAMD12 RAPGEF2 MARCHF6 CNTN2
9 early myoclonic encephalopathy 10.5
10 hyperlipoproteinemia, type iii 10.4
11 lipoprotein quantitative trait locus 10.4
12 pancreatic cancer 10.4
13 myoclonus epilepsy 10.4
14 gastric cancer 10.4
15 gastric adenocarcinoma 10.4
16 ischemia 10.3
17 tremor 10.3
18 adenocarcinoma 10.3
19 visual epilepsy 10.3
20 seizure disorder 10.3
21 melanoma 10.3
22 myoclonus 10.3
23 arteries, anomalies of 10.2
24 coronary stenosis 10.2
25 macular retinal edema 10.2
26 diabetic macular edema 10.2
27 melanoma, cutaneous malignant 10 10.2
28 chlamydia 10.2
29 neutropenia 10.2
30 subacute delirium 10.2
31 posttransplant acute limbic encephalitis 10.2
32 spinocerebellar ataxia 37 10.2 YEATS2 SAMD12 DAB1
33 trichorhinophalangeal syndrome, type ii 10.2 SAMD12 CSMD3
34 adolescence-adult electroclinical syndrome 10.2 SAMD12 RAPGEF2 KCNV1 DAB1
35 heart disease 10.2
36 light fixation seizure syndrome 10.2
37 skin melanoma 10.2
38 brain injury 10.2
39 dentatorubral-pallidoluysian atrophy 10.1
40 yemenite deaf-blind hypopigmentation syndrome 10.1
41 congenital stationary night blindness 10.1
42 night blindness 10.1
43 x-linked congenital stationary night blindness 10.1
44 aortic aneurysm, familial abdominal, 1 10.1
45 hair whorl 10.1
46 myoclonic epilepsy of unverricht and lundborg 10.1
47 arts syndrome 10.1
48 lung cancer susceptibility 3 10.1
49 microvascular complications of diabetes 5 10.1
50 aortic aneurysm 10.1

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



Diseases related to Familial Adult Myoclonic Epilepsy

Symptoms & Phenotypes for Familial Adult Myoclonic Epilepsy

Human phenotypes related to Familial Adult Myoclonic Epilepsy:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
2 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
3 hand tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0002378
4 focal-onset seizure 58 31 frequent (33%) Frequent (79-30%) HP:0007359
5 generalized-onset seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002197
6 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
7 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
8 amaurosis fugax 58 31 occasional (7.5%) Occasional (29-5%) HP:0100576

Drugs & Therapeutics for Familial Adult Myoclonic Epilepsy

Drugs for Familial Adult Myoclonic Epilepsy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 4 58-61-7 60961
2
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 3 67-73-2 6215
3 Hormones Phase 3
4 Hormone Antagonists Phase 3
5 glucocorticoids Phase 3
6 Anti-Inflammatory Agents Phase 3
7
Metformin Approved Phase 2 657-24-9 14219 4091
8
Pemetrexed Approved, Investigational Phase 2 137281-23-3, 150399-23-8 60843 446556
9
leucovorin Approved Phase 2 58-05-9 6006 143
10
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
11
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
12
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
13 Vitamin B Complex Phase 2
14 Hypoglycemic Agents Phase 2
15 Folic Acid Antagonists Phase 2
16 Folate Phase 2
17 Vitamin B9 Phase 2
18
Tenofovir Experimental, Investigational Phase 1 147127-20-6 464205
19 Anti-Infective Agents Phase 1
20 Anti-HIV Agents Phase 1
21 Reverse Transcriptase Inhibitors Phase 1
22 Antiviral Agents Phase 1
23 Anti-Retroviral Agents Phase 1
24
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
25
Medroxyprogesterone acetate Approved, Investigational 71-58-9
26
Leuprolide Approved, Investigational 53714-56-0 657181 3911
27
Polyestradiol phosphate Approved 28014-46-2
28
Hydrocortisone acetate Approved, Vet_approved 50-03-3
29
Hydrocortisone Approved, Vet_approved 50-23-7 5754
30
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
31
Acetylcholine Approved, Investigational 51-84-3 187
32
Nitroglycerin Approved, Investigational 55-63-0 4510
33
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
34 Tocotrienol Investigational 6829-55-6
35 Estradiol 17 beta-cypionate
36 Contraceptive Agents, Male
37 Contraceptive Agents
38 Contraceptives, Oral
39 Estradiol 3-benzoate
40 Antineoplastic Agents, Hormonal
41 Estrogens
42
Medroxyprogesterone 520-85-4 10631
43 Insulin, Globin Zinc
44 Islet Amyloid Polypeptide
45 Hydrocortisone 17-butyrate 21-propionate
46 insulin
47 Hydrocortisone hemisuccinate
48 Liver Extracts
49 Tocotrienols
50 Tocopherols

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 A Developmental Clinical Study of Management Guided by Coronary Angiography Combined With Fractional Flow Reserve (FFR) Measurement Versus Management Guided by Coronary Angiography Alone(Standard Care) in Patients With Non-ST Elevation MI. Unknown status NCT01764334 Phase 4
2 Fractional Flow Reserve Versus Angiography for Multivessel Evaluation (FAME) 3 Trial A Comparison of Fractional Flow Reserve-Guided Percutaneous Coronary Intervention and Coronary Artery Bypass Graft Surgery in Patients With Multivessel Coronary Artery Disease Active, not recruiting NCT02100722 Phase 4
3 A Randomized Comparative Effectiveness Study of Routine Versus Selective Use of Fractional Flow Reserve (FFR) to Guide Non-Emergent Percutaneous Coronary Intervention (PCI) Terminated NCT02000661 Phase 4
4 Revascularization With the Use of Biodegradable Scaffolds Compared to CABG in Patients With Advanced Stable Ischemic Heart Disease Terminated NCT02334826 Phase 4
5 A Randomised Controlled Trial of Family Mediated Exercises (FAME) Following Stroke Unknown status NCT00666744 Phase 3
6 Multi-centre Cluster Randomised Trial Comparing a Community Group Exercise Programme With Home Based Exercise With Usual Care for Over 65s in Primary Care Unknown status NCT00726531 Phase 3
7 Fluocinolone Acetonide in Diabetic Macular Edema (FAME) Extension Study Completed NCT01304706 Phase 3 Fluocinolone Acetonide
8 Application of Whole-body Vibration With Stochastic Resonance in Frail Elderly: The Effects on Postural Control: a Pilot Study Completed NCT01543243 Phase 2
9 Exploiting Metformin Plus/Minus Cyclic FAsting Mimicking Diet (FMD) to Improve the Efficacy of Platinum-pemetrexed Chemotherapy in Advanced LKB1-inactive Lung Adenocarcinoma: the FAME Trial Not yet recruiting NCT03709147 Phase 2 Metformin Hydrochloride;Cisplatin;Carboplatin;Pemetrexed
10 A Phase I Trial to Assess the Safety of Tenofovir Gel and Film Formulations: FAME 04 Completed NCT01989663 Phase 1 1% vaginally applied tenofovir gel;Tenofovir film- 10mg;Tenofovir Film-40 mg
11 The Effect of a Modified FaME vs. a Multisensory Group Balance Programme on Falls Risk, Balance Confidence and Quality of Life in Older Adult Who Fall or Are at Risk of Falling Unknown status NCT02696668
12 MRI Perfusion Imaging at 3T With TX Parallel RF Technology to Identify Myocardial Ischemia Compared to Invasive FFR Measurements Unknown status NCT01277055
13 Comparison of the Cost-Effectiveness of Coronary CT Angiography Versus Myocardial SPECT in Patients With Intermediate Risk of Coronary Heart Disease Unknown status NCT01542086
14 Instantaneous Wave-Free Ratio and Fractional Flow Reserve for the Assessment of Non Culprit Lesions in Patients With ST-segment Elevation Myocardial Infarction Unknown status NCT02869906
15 FFR Versus iFR in Assessment of Hemodynamic Lesion Significance Using Gene Polymorphisms and Lesion Morphology Assessed by OCT (FiGARO Trial) Unknown status NCT03033810
16 The Efficacy of Cognitive-behavioral Therapy Focused on Desire-satisfaction for Treatment-seeking Disordered Gamblers Unknown status NCT02491996
17 Fractional Flow Reserve-Guided Percutaneous Coronary Intervention Plus Optimal Medical Treatment Versus Optimal Medical Treatment Alone in Patients With Stable Coronary Artery Disease Completed NCT01132495
18 Vascular Mechanisms for the Effects of Loss of Ovarian Hormone Function on Cognition in Women Completed NCT02122198 Leuprolide acetate;Estradiol;Medroxyprogesterone;Placebo
19 Pronostic Impact of Flow Fraction Reserve on Intermediate Stenoses Completed NCT03588455
20 Effects of Whole Body Vibration With Stochastic Resonance and Exergames in the Elderly in Need of Care: Effects on Physical Functional Performance Completed NCT01713790
21 Observational Study of the Evaluation of FFR in the Treatment of Coronary Artery Disease Completed NCT01835808
22 Federal Study of Adherence to Medications in the Elderly (FAME) Completed NCT00393419
23 Effects of Whole Body Vibration With Stochastic Resonance and Dance Therapy in the Elderly: Effects on Physical Functional Performance Completed NCT01704976
24 HeartFlowNXT - HeartFlow Analysis of Coronary Blood Flow Using Coronary CT Angiography: NeXt sTeps Completed NCT01757678
25 Food, Adolescence, Mood and Exercise Completed NCT02015377
26 Evaluating the Feasibility of Providing a Newly Developed Multifactorial Falls Prevention Programme for Community-dwelling Patients After Stroke. Completed NCT03484351
27 Collaborative Pilot Study to Determine the Correlation Between Intra-Operative Observations Using SPY® Near Infra-Red Imaging and Cardiac Catheterization Laboratory Physiological Assessment of Lesion Severity (PERSEUS Pilot Study) Completed NCT02138305
28 Effect of a Chia Supplemented Diet (Salvia Hispanica) on the Cardiometabolic Risk Profile in Patients With NAFLD (Non Alcoholic Fatty Liver Disease) Completed NCT03942822
29 Keeping Adults Physically Active: Randomised Controlled Feasibility Study Completed NCT03824015
30 Does Routine Pressure Wire Assessment Influence Management Strategy at Coronary Angiography for Diagnosis of Chest Pain? Completed NCT01070771
31 Fractional Flow Reserve Stability Study of Non-culprit Vessels in Patients With ST Elevation Myocardial Infarction Completed NCT01065103
32 Effect of Fish Consumption on Cardiovascular Risk Factors Completed NCT03111784
33 Urinary Incontinence, Mobility & Muscle Function in Older Women: Functional Assessment and Muscle Evaluation Through Exercise (FAME) Trial Recruiting NCT03166150
34 Evaluation of the Opsens Fractional Flow Reserve (FFR) Wire as a "Work Horse" Wire Recruiting NCT03227588
35 Angina in Patients Without Obstructive Coronary Disease as Revealed by CT Coronary Angiography (Cor-CTCA): an Observational Cohort Study Involving Coronary Function Tests and a Nested Randomised Trial Recruiting NCT03477890
36 IMaging and Physiologic Predictors of Atherosclerotic Progression in Deferred Lesions With Contemporary Medical Treatment Based on Fractional Flow Reserve-guided Strategy Recruiting NCT03030495
37 The Utility of (Fractional Flow Reserve)FFR Before and After Successful Percutaneous Coronary Intervention Active, not recruiting NCT04224610
38 Efficacy of a Tailored Exercise Programme and Home Evaluation for Falls Prevention in Older People With a Visual Impairment Not yet recruiting NCT04078529
39 Evaluation of Strong & Steady: A Group Exercise Program for Preventing Functional Decline and Falls Among Community Dwelling Older Adults Not yet recruiting NCT04127539

Search NIH Clinical Center for Familial Adult Myoclonic Epilepsy

Genetic Tests for Familial Adult Myoclonic Epilepsy

Anatomical Context for Familial Adult Myoclonic Epilepsy

MalaCards organs/tissues related to Familial Adult Myoclonic Epilepsy:

40
Heart, Liver, Lung, Testes, Brain

Publications for Familial Adult Myoclonic Epilepsy

Articles related to Familial Adult Myoclonic Epilepsy:

(show all 45)
# Title Authors PMID Year
1
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. 6 61
31664034 2019
2
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. 61 6
31664039 2019
3
Familial cortical myoclonic tremor with epilepsy (FCMTE): Clinical characteristics and exclusion of linkages to 8q and 2p in a large French family. 6 61
19616813 2009
4
Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2. 6 61
11701600 2001
5
TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4. 6
31539032 2019
6
Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1. 6
29939203 2018
7
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. 6
29507423 2018
8
The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy. 6
24114805 2014
9
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. 6
23518707 2013
10
Familial cortical myoclonic tremor with epilepsy: TTTCA/TTTTA repeat expansions and expanding phenotype in two Chinese families. 61
32194077 2020
11
Unravelling the enigma of cortical tremor and other forms of cortical myoclonus. 61
32417917 2020
12
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families. 61
32203200 2020
13
Familial adult myoclonic epilepsy: A new expansion repeats disorder. 61
30928698 2019
14
Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy. 61
30194086 2019
15
TTTCA repeat expansion causes familial cortical myoclonic tremor with epilepsy. 61
30351492 2019
16
Whole exome sequencing reveals novel NOV and DCAF13 variants in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy. 61
30003937 2018
17
Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review. 61
29416935 2018
18
δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. 61
29127138 2017
19
Familial cortical myoclonic tremor and epilepsy: Description of a new South African pedigree with 30 year follow up. 61
28237853 2017
20
Cerebellar Atrophy in Cortical Myoclonic Tremor and Not in Hereditary Essential Tremor-a Voxel-Based Morphometry Study. 61
26519379 2016
21
Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy. 61
27513994 2016
22
Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances. 61
26751243 2016
23
Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family. 61
26130016 2015
24
Altered intrinsic brain activity in patients with familial cortical myoclonic tremor and epilepsy: an amplitude of low-frequency fluctuation study. 61
25796300 2015
25
Genetic analysis of a Chinese family provides further evidence for linkage of familial cortical myoclonic tremor with epilepsy to 5p15.31-p15. 61
25947986 2015
26
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. 61
23955123 2013
27
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype. 61
23663087 2013
28
Decreased cerebellar fiber density in cortical myoclonic tremor but not in essential tremor. 61
22961557 2013
29
Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus. 61
22491192 2012
30
UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family. 61
23029623 2012
31
Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree. 61
21850007 2011
32
Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p. 61
20548044 2010
33
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 61
19222544 2009
34
Simultaneous EMG-functional MRI recordings can directly relate hyperkinetic movements to brain activity. 61
17979119 2008
35
Oculomotor abnormalities in myoclonic tremor: a comparison with spinocerebellar ataxia type 6. 61
18687731 2008
36
Decreased cortical inhibition and yet cerebellar pathology in 'familial cortical myoclonic tremor with epilepsy'. 61
17894334 2007
37
FAME 3: a novel form of progressive myoclonus and epilepsy. 61
17452583 2007
38
Cortical tremor (FCMTE: familial cortical myoclonic tremor with epilepsy). 61
17336780 2006
39
Coherence analysis differentiates between cortical myoclonic tremor and essential tremor. 61
16200541 2006
40
Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features. 61
15747356 2005
41
Familial adult myoclonic epilepsy (FAME). 61
15508931 2005
42
Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME). 61
12451228 2002
43
Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME). 61
11914412 2002
44
Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. 61
10522869 1999
45
Genetics of myoclonic and myoclonus epilepsies. 61
8891396 1995

Variations for Familial Adult Myoclonic Epilepsy

Expression for Familial Adult Myoclonic Epilepsy

Search GEO for disease gene expression data for Familial Adult Myoclonic Epilepsy.

Pathways for Familial Adult Myoclonic Epilepsy

GO Terms for Familial Adult Myoclonic Epilepsy

Biological processes related to Familial Adult Myoclonic Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adult walking behavior GO:0007628 9.16 DAB1 CNTN2
2 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 8.96 RAPGEF2 ADRA2B
3 neuron migration GO:0001764 8.92 USP9X RAPGEF2 DAB1 CNTN2

Sources for Familial Adult Myoclonic Epilepsy

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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
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