MCID: ERL001
MIFTS: 49

Early Myoclonic Encephalopathy malady

Categories: Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Early Myoclonic Encephalopathy

Aliases & Descriptions for Early Myoclonic Encephalopathy:

Name: Early Myoclonic Encephalopathy 12 56 29 14 69
Epilepsies, Myoclonic 42 69
Myoclonic Seizure 12 52
Early Myoclonic Encephalopathy with Suppression-Bursts 56
Epileptic Seizures - Myoclonic 12
Epileptic Seizures, Myoclonic 12
Myoclonic Seizure Disorder 12
Myoclonia Epileptica 12
Myoclonic Epilepsy 12

Characteristics:

Orphanet epidemiological data:

56
early myoclonic encephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:308
MeSH 42 D004831
Orphanet 56 ORPHA1935
UMLS via Orphanet 70 C0270855
ICD10 via Orphanet 34 G40.4
UMLS 69 C0014550

Summaries for Early Myoclonic Encephalopathy

MalaCards based summary : Early Myoclonic Encephalopathy, also known as epilepsies, myoclonic, is related to epilepsy, generalized, with febrile seizures plus, type 5 and spinal muscular atrophy with progressive myoclonic epilepsy, and has symptoms including myoclonus, lethargy and muscular hypotonia. An important gene associated with Early Myoclonic Encephalopathy is SLC25A22 (Solute Carrier Family 25 Member 22), and among its related pathways/superpathways are Neuroscience and Biogenic Amine Synthesis. The drugs Stiripentol and Anticonvulsants have been mentioned in the context of this disorder. Related phenotypes are Increased shRNA abundance (Z-score > 2) and behavior/neurological

Wikipedia : 71 Early myoclonic encephalopathy (EME) is an epilepsy syndrome where myoclonic seizures develop in the... more...

Related Diseases for Early Myoclonic Encephalopathy

Diseases related to Early Myoclonic Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
id Related Disease Score Top Affiliating Genes
1 epilepsy, generalized, with febrile seizures plus, type 5 32.8 CSTB GABRG2 SCN1A
2 spinal muscular atrophy with progressive myoclonic epilepsy 12.4
3 myoclonic epilepsy associated with ragged-red fibers 12.3
4 myoclonic epilepsy, juvenile 1 12.2
5 myoclonic epilepsy, infantile, familial 12.2
6 myoclonic epilepsy myopathy sensory ataxia 12.1
7 myoclonic epilepsy of infancy 12.0
8 benign adult familial myoclonic epilepsy 12.0
9 dravet syndrome 12.0
10 scn1a-related severe myoclonic epilepsy in infancy 11.9
11 myoclonic epilepsy in non-progressive encephalopathies 11.8
12 cacnb4-related juvenile myoclonic epilepsy 11.8
13 clcn2-related juvenile myoclonic epilepsy 11.8
14 efhc1-related juvenile myoclonic epilepsy 11.8
15 ejm2-related juvenile myoclonic epilepsy 11.8
16 ejm3-related juvenile myoclonic epilepsy 11.8
17 ejm4-related juvenile myoclonic epilepsy 11.8
18 gabra1-related juvenile myoclonic epilepsy 11.8
19 gabrd-related juvenile myoclonic epilepsy 11.8
20 epilepsy, progressive myoclonic 2b 11.8
21 epilepsy, progressive myoclonic 1a 11.8
22 epilepsy, progressive myoclonic 3, with or without intracellular inclusions 11.7
23 epilepsy, progressive myoclonic 4, with or without renal failure 11.7
24 epilepsy, juvenile myoclonic 5 11.7
25 progressive myoclonus epilepsy 11.7
26 epilepsy, progressive myoclonic 7 11.6
27 epilepsy, progressive myoclonic 5 11.6
28 epilepsy, idiopathic generalized 9 11.6
29 epilepsy, idiopathic generalized 11 11.6
30 epilepsy, myoclonic, familial adult, 2 11.6
31 epilepsy, progressive myoclonic 6 11.5
32 epilepsy, progressive myoclonic, 9 11.5
33 epilepsy, progressive myoclonic, 8 11.5
34 unverricht-lundborg syndrome 11.3
35 progressive myoclonus epilepsy, lafora type 11.2
36 generalized epilepsy with febrile seizures plus 11.2
37 epileptic encephalopathy, early infantile, 4 11.1
38 epileptic encephalopathy, early infantile, 3 11.1
39 encephalopathy 10.5
40 marek disease 10.2 SCN1A SLC25A22
41 myosin storage myopathy 10.1 ATN1 CSTB EPM2A
42 sensory peripheral neuropathy 10.1 ARX CDKL5 SCN1A
43 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.1 GABRG2 SCN1A
44 atrial fibrillation, familial, 13 10.1 SCN1A SCN1B
45 syne1-related autosomal recessive cerebellar ataxia 10.1 SCN1A SCN1B
46 aceruloplasminemia 10.0 CSTB GABRG2 SCN1A
47 floppy infant syndrome 10.0 ARX CDKL5 SCN1A SLC25A22
48 adult brain ependymoma 10.0 CSTB SCN1A
49 epileptic encephalopathy, early infantile, 15 9.9 ARX CDKL5 SCN1A SIK1 SLC25A22
50 epileptic encephalopathy, early infantile, 11 9.9 GABRG2 SCN1A SCN1B

Graphical network of the top 20 diseases related to Early Myoclonic Encephalopathy:



Diseases related to Early Myoclonic Encephalopathy

Symptoms & Phenotypes for Early Myoclonic Encephalopathy

Human phenotypes related to Early Myoclonic Encephalopathy:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus 56 32 Very frequent (99-80%) HP:0001336
2 lethargy 56 32 Frequent (79-30%) HP:0001254
3 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
4 hyperreflexia 56 32 Frequent (79-30%) HP:0001347
5 dysphagia 56 32 Frequent (79-30%) HP:0002015
6 global developmental delay 56 32 Frequent (79-30%) HP:0001263
7 recurrent respiratory infections 56 32 Frequent (79-30%) HP:0002205
8 generalized myoclonic seizures 56 32 Very frequent (99-80%) HP:0002123
9 infantile spasms 56 32 Very frequent (99-80%) HP:0012469
10 poor suck 56 32 Frequent (79-30%) HP:0002033
11 hypsarrhythmia 56 32 Occasional (29-5%) HP:0002521
12 epileptic encephalopathy 56 32 Very frequent (99-80%) HP:0200134
13 eyelid myoclonias 56 32 Very frequent (99-80%) HP:0011168
14 focal tonic seizures 56 32 Frequent (79-30%) HP:0011167
15 eeg abnormality 56 Very frequent (99-80%)
16 feeding difficulties 56 Frequent (79-30%)
17 focal motor seizures 56 Very frequent (99-80%)

UMLS symptoms related to Early Myoclonic Encephalopathy:


myoclonus, seizures, muscle spasticity

GenomeRNAi Phenotypes related to Early Myoclonic Encephalopathy according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.88 EPM2A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.88 CSTB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.88 CSTB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.88 EPM2A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.88 CSTB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.88 SCN1B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.88 EPM2A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.88 SCN1B
9 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.88 SCN1B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.88 EPM2A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.88 SLC25A22
12 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.88 CSTB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.88 SCN1B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.88 SCN1A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.88 SCN1A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.88 SCN1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.88 SCN1B SLC25A22
18 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.88 SCN1B SLC25A22 CSTB EPM2A SCN1A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.88 CSTB
20 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.88 SCN1A SLC25A22
21 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.88 SCN1B
22 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.88 SCN1B
23 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.88 EPM2A
24 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.88 SLC25A22
25 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.88 SCN1B
26 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.88 SLC25A22 EPM2A
27 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.88 SCN1A
28 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.88 SLC25A22
29 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.88 SCN1A

MGI Mouse Phenotypes related to Early Myoclonic Encephalopathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ATN1 CDKL5 CSTB EPM2A ERBB4 GABRG2
2 growth/size/body region MP:0005378 9.9 ARX ATN1 CSTB EPM2A GABRG2 GBA
3 nervous system MP:0003631 9.77 AMT ARX ATN1 CDKL5 CSTB EPM2A
4 normal MP:0002873 9.23 SCN1B TH ARX ATN1 ERBB4 GABRG2

Drugs & Therapeutics for Early Myoclonic Encephalopathy

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

(show all 42)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Stiripentol Approved Phase 4,Phase 3 49763-96-4
2 Anticonvulsants Phase 4,Phase 3,Phase 2
3 Piracetam Approved Phase 3 7491-74-9
4
Ethanol Approved Phase 3,Phase 2 64-17-5 702
5
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
6
Lacosamide Approved Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
7
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
8
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
9 Neurotransmitter Agents Phase 3,Phase 2
10 Etiracetam Phase 3
11 Neuroprotective Agents Phase 3
12 Nootropic Agents Phase 3
13 Protective Agents Phase 3,Phase 2
14 Pharmaceutical Solutions Phase 3,Phase 2
15 GABA Agents Phase 3
16 GABA Modulators Phase 3
17 Neurotransmitter Uptake Inhibitors Phase 3
18
Serotonin Phase 3 50-67-9 5202
19 Serotonin Agents Phase 3
20 Serotonin Uptake Inhibitors Phase 3
21 Antioxidants Phase 3
22 Strawberry Nutraceutical Phase 3,Phase 2
23
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
24
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
25
Verapamil Approved Phase 2 52-53-9 2520
26
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
27
Glycerol Approved, Experimental Phase 2 56-81-5 753
28 Antiparkinson Agents Phase 2
29 Dopamine Agents Phase 2
30 Dopamine agonists Phase 2
31 Anti-Arrhythmia Agents Phase 2
32 calcium channel blockers Phase 2
33 Calcium, Dietary Phase 2
34 Vasodilator Agents Phase 2
35 Neuroserpin
36 HIV Protease Inhibitors
37
protease inhibitors
38 Serine Proteinase Inhibitors
39 insulin
40 Insulin, Globin Zinc
41 Astragalus Nutraceutical
42 serine Nutraceutical

Interventional clinical trials:

(show all 46)
id Name Status NCT ID Phase
1 Stiripentol in Dravet Syndrome No longer available NCT01533506 Phase 4
2 Levetiracetam as add-on Treatment of Myoclonic Jerks in Adolescents + Adults Completed NCT00150774 Phase 3
3 Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1) Completed NCT02091375 Phase 3
4 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and Adults Completed NCT00368251 Phase 3
5 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and Adults Completed NCT00357669 Phase 3
6 Study of Antiepileptic Drug in Generalised Convulsive Status Epilepticus Completed NCT01150331 Phase 3
7 Long Term Follow up Treatment With Levetiracetam in Subjects of 4 Years and Older With Generalized Epilepsy Completed NCT00150748 Phase 3
8 GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Recruiting NCT02224703 Phase 3
9 A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Recruiting NCT02826863 Phase 3
10 A Two-Part Study to Investigate the Dose-Ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children ≥2 Years Old and Young Adults With Dravet Syndrome Recruiting NCT02926898 Phase 3
11 A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) in Children and Young Adults With Dravet Syndrome Recruiting NCT02682927 Phase 3
12 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT02823145 Phase 3
13 An Open Label Extension Study of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet or Lennox-Gastaut Syndromes Enrolling by invitation NCT02224573 Phase 3
14 Safety and Efficacy of Lacosamide as Additional Therapy in Patients Suffering From Epileptic Tonic Clonic Seizures Enrolling by invitation NCT02408549 Phase 3
15 Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Participants With Inadequately Controlled Dravet Syndrome Not yet recruiting NCT02318563 Phase 3
16 Efficacy and Safety of Adjunctive Zonisamide in Myoclonic Seizures Associated With Idiopathic Generalised Epilepsy Terminated NCT00693017 Phase 3
17 Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3
18 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3
19 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2
20 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Unknown status NCT01450423 Phase 2
21 Open-Label Study to Assess Lacosamide Safety as Add-on Therapy for Primary Generalized Tonic-Clonic Seizures in Subjects With Epilepsy Completed NCT01118949 Phase 2
22 A Dose-ranging Pharmacokinetics and Safety Study of GWP42003-P in Children With Dravet Syndrome (GWPCARE1) Completed NCT02091206 Phase 2
23 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2
24 Open-Label Extension Study to Assess the Safety and Seizure Frequency Associated With Lacosamide for Primary Generalized Tonic-Clonic Seizures in Subjects With Epilepsy Completed NCT01118962 Phase 2
25 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2
26 Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome Recruiting NCT02758626 Phase 2
27 A Study to Investigate the Safety and Efficacy of Lacosamide Added to the Patients Current Therapy in Patients Aged 1 Month to Less Than 18 Years Old With Epilepsy Syndromes Associated With Generalized Seizures. Recruiting NCT01969851 Phase 2
28 Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Active, not recruiting NCT01993186 Phase 2
29 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
30 Genetic Disease Gene Identification Unknown status NCT00916903
31 Effect of Levetiracetam on Brain Excitability Completed NCT00006191
32 Ketogenic Diet for Child Epilepsy and Seizure Control Completed NCT00004729
33 Epilepsy Motion Sensing Completed NCT01850498
34 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176
35 Ketogenic Diet in Lafora Disease Completed NCT00007124
36 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Recruiting NCT02229032
37 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608
38 Cardiac Arrhythmias in Dravet Syndrome Recruiting NCT02415686
39 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
40 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285
41 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Available NCT01983722
42 Compassionate Use of Stiripentol in Dravet Syndrome Available NCT01835314
43 Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies Available NCT02239276
44 Safety and Tolerability of Cannabidiol in Subjects With Drug Resistant Epilepsy Available NCT02660255
45 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Not yet recruiting NCT02910297
46 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children With Severe Epilepsy Not yet recruiting NCT02815540

Search NIH Clinical Center for Early Myoclonic Encephalopathy

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: epilepsies, myoclonic

Genetic Tests for Early Myoclonic Encephalopathy

Genetic tests related to Early Myoclonic Encephalopathy:

id Genetic test Affiliating Genes
1 Early Myoclonic Encephalopathy 29

Anatomical Context for Early Myoclonic Encephalopathy

Publications for Early Myoclonic Encephalopathy

Articles related to Early Myoclonic Encephalopathy:

(show all 26)
id Title Authors Year
1
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. ( 27789573 )
2016
2
A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy. ( 26371980 )
2015
3
Early Myoclonic Encephalopathy in 9q33-q34 Deletion Encompassing STXBP1 and SPTAN1. ( 25779878 )
2015
4
Successful treatment of early myoclonic encephalopathy using lidocaine and carbamazepine. ( 23886871 )
2013
5
Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. ( 23044011 )
2012
6
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. ( 21507589 )
2012
7
Dextromethorphan in the treatment of early myoclonic encephalopathy evolving into migrating partial seizures in infancy. ( 22656400 )
2012
8
Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia. ( 22261077 )
2012
9
Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: a functional neuroimaging study. ( 19922588 )
2010
10
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4. ( 18854870 )
2009
11
Early myoclonic encephalopathy. ( 19812426 )
2009
12
Early myoclonic encephalopathy and nonketotic hyperglycinemia. ( 19818941 )
2009
13
Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other? ( 16829044 )
2006
14
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. ( 16829045 )
2006
15
Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia. ( 16551461 )
2006
16
Repetitive EEG recordings are necessary for the diagnosis of early myoclonic encephalopathy. ( 16010070 )
2005
17
Topiramate for the treatment of infants with early myoclonic encephalopathy. ( 23649028 )
2003
18
Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome. ( 11701285 )
2001
19
A neurodegenerative disorder with early myoclonic encephalopathy, retinal pigmentary degeneration and nephronophthisis. ( 10761830 )
2000
20
The controversy regarding diagnostic criteria for early myoclonic encephalopathy. ( 9840674 )
1998
21
A case of early myoclonic encephalopathy with the congenital nephrotic syndrome. ( 9105663 )
1997
22
Early infantile epileptic syndromes with suppression-bursts: early myoclonic encephalopathy vs. Ohtahara syndrome. ( 8271543 )
1993
23
Burst suppression and impairment of neocortical ontogenesis: electroclinical and neuropathologic findings in two infants with early myoclonic encephalopathy. ( 8404728 )
1993
24
Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions. ( 2120281 )
1990
25
Clinical seizure manifestations in a case of early myoclonic encephalopathy. ( 2124298 )
1990
26
Clinical and electroencephalographical follow-up study of early myoclonic encephalopathy. ( 2510534 )
1989

Variations for Early Myoclonic Encephalopathy

ClinVar genetic disease variations for Early Myoclonic Encephalopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A22 NM_001191061.1(SLC25A22): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121918334 GRCh37 Chromosome 11, 792429: 792429
2 SLC25A22 NM_001191061.1(SLC25A22): c.706G> T (p.Gly236Trp) single nucleotide variant Pathogenic rs121918335 GRCh37 Chromosome 11, 792340: 792340
3 SLC25A22 NM_001191061.1(SLC25A22): c.328G> C (p.Gly110Arg) single nucleotide variant Pathogenic rs587777243 GRCh38 Chromosome 11, 792954: 792954
4 SLC25A22 NM_024698.5(SLC25A22): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs797045969 GRCh38 Chromosome 11, 792722: 792722

Copy number variations for Early Myoclonic Encephalopathy from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 48735 11 102165860 102174104 Amplification MMP1 Myoclonic epilepsy
2 138575 2 166553915 166638395 Deletion SCN1A Myoclonic epilepsy
3 159658 21 44018259 44020687 Duplication CSTB Myoclonic epilepsy

Expression for Early Myoclonic Encephalopathy

Search GEO for disease gene expression data for Early Myoclonic Encephalopathy.

Pathways for Early Myoclonic Encephalopathy

Pathways related to Early Myoclonic Encephalopathy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.43 SCN1A SCN1B TH TPH1
2
Show member pathways
10.3 TH TPH1

GO Terms for Early Myoclonic Encephalopathy

Cellular components related to Early Myoclonic Encephalopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 node of Ranvier GO:0033268 9.16 SCN1A SCN1B
2 voltage-gated sodium channel complex GO:0001518 8.96 SCN1A SCN1B
3 sodium channel complex GO:0034706 8.62 SCN1A SCN1B

Biological processes related to Early Myoclonic Encephalopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to immobilization stress GO:0035902 9.4 TH TPH1
2 regulation of sodium ion transport GO:0002028 9.37 SCN1B SIK1
3 mammary gland alveolus development GO:0060749 9.32 ERBB4 TPH1
4 cardiac muscle cell action potential involved in contraction GO:0086002 9.26 SCN1A SCN1B
5 aromatic amino acid family metabolic process GO:0009072 9.16 TH TPH1
6 neuronal action potential propagation GO:0019227 8.96 SCN1A SCN1B
7 response to pyrethroid GO:0046684 8.62 SCN1B TH

Molecular functions related to Early Myoclonic Encephalopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 amino acid binding GO:0016597 9.16 TH TPH1
2 voltage-gated sodium channel activity GO:0005248 8.96 SCN1A SCN1B
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0016714 8.62 TH TPH1

Sources for Early Myoclonic Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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