MCID: ERL001
MIFTS: 60

Early Myoclonic Encephalopathy

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Early Myoclonic Encephalopathy

MalaCards integrated aliases for Early Myoclonic Encephalopathy:

Name: Early Myoclonic Encephalopathy 12 59 37 29 6 15 72
Myoclonic Epilepsy 12 75 6 17
Epilepsies, Myoclonic 44 72
Myoclonic Seizure 12 55
Early Myoclonic Encephalopathy with Suppression-Bursts 59
Epileptic Seizures - Myoclonic 12
Epileptic Seizures, Myoclonic 12
Myoclonic Seizure Disorder 12
Myoclonia Epileptica 12

Characteristics:

Orphanet epidemiological data:

59
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
KEGG 37 H01819
MeSH 44 D004831
ICD10 via Orphanet 34 G40.4
UMLS via Orphanet 73 C0270855
Orphanet 59 ORPHA1935
UMLS 72 C0014550 C0270855

Summaries for Early Myoclonic Encephalopathy

KEGG : 37
Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, onset before 3 months of age, and persistent suppression-burst pattern in electroencephalograph (EEG) are accepted as the diagnostic criteria for EME. The pathogenesis of EME is variable, with structural, metabolic, and genetic abnormalities all playing a role. Associated metabolic abnormalities are frequently described. In particular, nonketotic hyperglycinemia has been associated with a large number of cases. The prognosis of EME is poor, with no effective treatment, and children with the condition either die within 1-2 years after birth or survive in a persistent vegetative state.

MalaCards based summary : Early Myoclonic Encephalopathy, also known as myoclonic epilepsy, is related to myoclonic epilepsy of infancy and myoclonic epilepsy of unverricht and lundborg, and has symptoms including myoclonus, muscle spasticity and myoclonic seizures. An important gene associated with Early Myoclonic Encephalopathy is SLC25A22 (Solute Carrier Family 25 Member 22), and among its related pathways/superpathways are Benzodiazepine Pathway, Pharmacodynamics and Nicotine addiction. The drugs Strawberry and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and skin, and related phenotypes are generalized myoclonic seizures and myoclonus

Wikipedia : 75 Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. When myoclonic jerks... 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 411)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of infancy 34.3 SCN1A GABRG2
2 myoclonic epilepsy of unverricht and lundborg 34.3 EPM2A CSTB
3 myoclonic epilepsy associated with ragged-red fibers 33.5 MT-TK MT-ND5 COX5A
4 epilepsy, idiopathic generalized 10 33.2 SCN1A GABRG2 CSTB CHRNA4
5 generalized epilepsy with febrile seizures plus 32.5 SCN1B SCN1A GABRG2
6 generalized epilepsy with febrile seizures plus, type 1 32.2 SCN1B SCN1A
7 epilepsy, idiopathic generalized 32.2 SCN1B SCN1A GABRG2 CHRNA4
8 myoclonus epilepsy 31.1 EPM2A CSTB
9 epilepsy with generalized tonic-clonic seizures 30.9 SCN1A CSTB
10 encephalopathy 30.7 SLC25A22 SCN1A MT-ND5 CDKL5 ARX
11 childhood absence epilepsy 30.7 SCN1B GABRG2 CHRNA4
12 west syndrome 30.5 SIK1 SCN1A CDKL5 ARX
13 early infantile epileptic encephalopathy 30.4 SLC25A22 SIK1 SCN1A CDKL5 ARX
14 malignant migrating partial seizures of infancy 30.3 SLC25A22 SCN1A
15 lennox-gastaut syndrome 30.3 SCN1A GABRG2 GABRB2
16 benign epilepsy with centrotemporal spikes 30.0 SCN1B GABRG2 EPM2A CSTB
17 febrile seizures 29.7 SCN1B SCN1A GABRG2 CHRNA4
18 epilepsy, nocturnal frontal lobe, 1 29.6 SCN1B SCN1A GABRG2 CHRNA4
19 epileptic encephalopathy, early infantile, 6 29.6 SLC25A22 SCN1B SCN1A GABRG2 CDKL5
20 focal epilepsy 29.6 SCN1A GABRG2 CHRNA4 CDKL5
21 mitochondrial encephalomyopathy 29.5 MT-TK MT-ND5 COX5A
22 epilepsy 27.0 SCN1B SCN1A GABRG2 EPM2A CSTB CHRNA4
23 spinal muscular atrophy with progressive myoclonic epilepsy 12.8
24 myoclonic epilepsy of lafora 12.8
25 myoclonic epilepsy, familial infantile 12.8
26 myoclonic epilepsy, juvenile 4 12.7
27 myoclonic epilepsy, juvenile 3 12.7
28 benign adult familial myoclonic epilepsy 12.7
29 epilepsy, myoclonic juvenile 12.7
30 myoclonic epilepsy myopathy sensory ataxia 12.5
31 myoclonic epilepsy, hartung type 12.4
32 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders 12.4
33 unverricht-lundborg syndrome 12.3
34 deafness, congenital, and familial myoclonic epilepsy 12.3
35 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 12.2
36 ataxia with myoclonic epilepsy and presenile dementia 12.2
37 spastic paraplegia with myoclonic epilepsy 12.2
38 progressive myoclonic epilepsy with neuroserpin inclusion bodies 12.2
39 myoclonic epilepsy in non-progressive encephalopathies 12.2
40 epilepsy, juvenile myoclonic 10 12.2
41 epilepsy, familial adult myoclonic, 2 12.2
42 epilepsy, idiopathic generalized 13 12.2
43 epilepsy, familial adult myoclonic, 1 12.2
44 epilepsy, progressive myoclonic 7 12.2
45 epilepsy, familial adult myoclonic, 6 12.2
46 epilepsy, familial adult myoclonic, 7 12.2
47 epilepsy, progressive myoclonic, 4, with or without renal failure 12.1
48 epilepsy, progressive myoclonic, 8 12.1
49 epilepsy, juvenile myoclonic 9 12.0
50 epilepsy, idiopathic generalized 11 12.0

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:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized myoclonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002123
2 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
3 epileptic encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0200134
4 infantile spasms 59 32 hallmark (90%) Very frequent (99-80%) HP:0012469
5 eyelid myoclonias 59 32 hallmark (90%) Very frequent (99-80%) HP:0011168
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
8 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
9 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
10 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
11 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
12 poor suck 59 32 frequent (33%) Frequent (79-30%) HP:0002033
13 focal tonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0011167
14 hypsarrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002521
15 eeg abnormality 59 Very frequent (99-80%)
16 feeding difficulties 59 Frequent (79-30%)
17 focal motor seizure 59 Very frequent (99-80%)

UMLS symptoms related to Early Myoclonic Encephalopathy:


myoclonus, muscle spasticity, myoclonic seizures

MGI Mouse Phenotypes related to Early Myoclonic Encephalopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ARX ATN1 CDKL5 CHRNA4 CSTB EPM2A
2 nervous system MP:0003631 9.44 AMT ARX ATN1 CDKL5 CHRNA4 CSTB

Drugs & Therapeutics for Early Myoclonic Encephalopathy

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

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Strawberry Approved Phase 3
2
Ethanol Approved Phase 3 64-17-5 702
3
tannic acid Approved Phase 3 1401-55-4
4
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
5
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
6
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
7 Soy Bean Phase 2, Phase 3
8 Serotonin Uptake Inhibitors Phase 3
9 Neurotransmitter Uptake Inhibitors Phase 3
10 Serotonin Agents Phase 3
11 Hormones Phase 3
12 calcium channel blockers Phase 3
13 Calcium, Dietary Phase 3
14
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
15
Ropinirole Approved, Investigational Phase 2 91374-21-9, 91374-20-8 5095 497540
16
Verapamil Approved Phase 2 52-53-9 2520
17
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
18 Antiparkinson Agents Phase 2
19 Anti-Arrhythmia Agents Phase 2
20 Vasodilator Agents Phase 2
21
Dopamine Approved 51-61-6, 62-31-7 681
22
Levetiracetam Approved, Investigational 102767-28-2 441341
23
Apomorphine Approved, Investigational 41372-20-7, 58-00-4 6005
24
Stiripentol Approved 49763-96-4
25
Serine Approved, Nutraceutical 56-45-1 5951
26 Astragalus
27 Dopamine Agents
28 Dopamine agonists
29 Serpins
30 HIV Protease Inhibitors
31 Serine Proteinase Inhibitors
32 Neuroserpin
33
protease inhibitors
34 Nootropic Agents
35 Sympathomimetics
36 Cardiotonic Agents
37 Gastrointestinal Agents
38 Peripheral Nervous System Agents
39 Autonomic Agents
40 Emetics
41 Ubiquinone

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double-blind, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome. Completed NCT02224703 Phase 3 GWP42003-P;Placebo Control
2 A Multicenter, 2-Cohort Trial to First Assess the Pharmacokinetic and Safety Profile of a Single Dose of ZX008 (Fenfluramine Hydrochloride) Oral Solution When Added to Standard of Care , Followed by a Randomized, Double-blind, Placebo-controlled Parallel Group Evaluation of the Efficacy, Safety, and Tolerability of ZX008 as Adjunctive Antiepileptic Therapy to Stiripentol Treatment in Children and Young Adults With Dravet Syndrome Completed NCT02926898 Phase 3 ZX008 - 0.2 mg/kg/day;ZX008 - 0.4 mg/kg/day;ZX008 - 20 mg/day maximum dose;Matching Placebo
3 A Double Blind, Placebo Controlled Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Completed NCT02091375 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo control
4 Evaluation Of The Efficacy Of The Modified Atkins Diet In Children With Refractory Epilepsy: A Randomized Controlled Trial. Completed NCT00836836 Phase 2, Phase 3
5 A Multicenter, Randomized, Double-blind, Parallel Group, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Recruiting NCT02826863 Phase 3 ZX008 - 0.8 mg/kg/day;ZX008 - 0.2 mg/kg/day;Placebo
6 An Open Label Extension Study to Investigate the Safety of Cannabidiol (GWP42003-P; CBD) in Children and Young Adults With Inadequately Controlled Dravet or Lennox-Gastaut Syndromes. Active, not recruiting NCT02224573 Phase 3 GWP42003-P
7 A Multicenter, Randomized, Double-blind, Parallel Group, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Active, not recruiting NCT02682927 Phase 3 ZX008 (Fenfluramine Hydrochloride);Matching Placebo
8 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT02823145 Phase 3 ZX008 (Fenfluramine Hydrochloride)
9 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy for Seizures in Patients With Rare Seizure Disorders Such as Epileptic Encephalopathies Including Dravet Syndrome and Lennox-Gastaut Syndrome Enrolling by invitation NCT03936777 Phase 3 ZX008 (Fenfluramine Hydrochloride)
10 An Exploratory, Pilot Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome: A Sub-study to the ZX008-1503 Open-Label Extension Trial Enrolling by invitation NCT03299842 Phase 3 ZX008 (Fenfluramine Hydrochloride)
11 A Double-blind, Randomised, Placebo-controlled, Multi-centre Study to Assess the Efficacy and Safety of Adjunctive Zonisamide in Myoclonic Seizures Associated With Idiopathic Generalised Epilepsy Terminated NCT00693017 Phase 3 Zonisamide;Placebo
12 Multi-site, Prospective, Open-label, Long-term, Flexible Dose, Interventional Study to Evaluate the Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3 Clobazam
13 Multi-site, Prospective, Randomised, Double-blind, Placebo-controlled, Parallel-group, Interventional Study to Evaluate the Efficacy, Safety, and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
14 A Multicenter, Randomized, Double-blind, Placebo- Controlled, Interventional Study to Assess the Safety and Efficacy of Pharmaceutical Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Subjects With Inadequately Controlled Dravet Syndrome Withdrawn NCT02318563 Phase 3 Cannabidiol Oral Solution;Placebo Solution
15 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Aged 15-50: A Randomized Controlled Trial Unknown status NCT01450423 Phase 2
16 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
17 An Open-Label, Dose-Escalating Study to Assess the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
18 A Double Blind, Placebo-controlled, Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Completed NCT02091206 Phase 2 GWP42003-P 5 mg/kg/day Dose;Placebo control;GWP42003-P 10 mg/kg/day Dose;GWP42003-P 20 mg/kg/day Dose
19 Verapamil as Adjunctive Seizure Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
20 A Phase 2, Prospective, Interventional, Open-Label, Multi-Site, Extension Study to Assess the Long-Term Safety and Tolerability of TAK-935 (OV935) as Adjunctive Therapy in Patients With Rare Epilepsy Recruiting NCT03635073 Phase 2 TAK-935
21 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies Recruiting NCT03650452 Phase 2 TAK-935;Placebo
22 An Open-Label Trial to Assess the Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Combination With Cannabidiol, as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome or Lennox-Gastaut Syndrome Active, not recruiting NCT03467113 Phase 1, Phase 2 ZX008 0.2 and 0.8 mg/kg/day
23 A Phase 2 Randomized, Double-Masked Placebo-Controlled Crossover Safety and Tolerability Study of Ataluren for Drug Resistant Epilepsy in Patients With Nonsense Mutation CDKL5 or Dravet Syndrome Active, not recruiting NCT02758626 Phase 2 ataluren;Placebo
24 A Long-Term Open-Label Extension Study of RP103-MITO-001 to Assess the Safety, Tolerability and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
25 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children Terminated NCT02815540 Phase 1, Phase 2 Cannabidiol
26 Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
27 Genetic Disease Gene Identification Unknown status NCT00916903
28 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Approved for marketing NCT01983722 Stiripentol
29 Clinical, Molecular and Biochemical Characterization of Familial Encephalopathy With Neuroserpin Inclusion Bodies Completed NCT00006176
30 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Completed NCT02229032
31 Cardiac Arrhythmias in Dravet Syndrome: an Observational, International, Multicentre Study Completed NCT02415686
32 Effects of Levetiracetam on Cortical Excitability in Humans Completed NCT00006191
33 Dopaminergic Reactivity In Idiopathic Generalized Epilepsy: A "Proof Of Concept" Clinical, Pharmacological And Neurophysiological Study Completed NCT01432821
34 Biology of Juvenile Myoclonic Epilepsy Recruiting NCT03400371
35 Genetics of Epilepsy and Related Disorders Recruiting NCT01858285
36 Neuronal Excitability of Hyperpolarization-activated Cyclic Nucleotide-gated (HCN1) Channel Mutations in Dravet Syndrome Recruiting NCT02896608
37 Treatment of Gait Disorders in Children With Dravet Syndrome Recruiting NCT03857451
38 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
39 Compassionate Use of Stiripentol in Dravet Syndrome Available NCT01835314 Stiripentol
40 ZX008 Expanded Access Protocol - Dravet Syndrome Treatment Plan Available NCT03780127 Fenfluramine Hydrochloride
41 The Becoming of Children With Doose Syndrome Not yet recruiting NCT04048213
42 Compassionate Use of Stiripentol in Intractable Epilepsy Due to Dravet Syndrome No longer available NCT01533506 stiripentol
43 Expanded Access Use of Stiripentol in Participants With Dravet Syndrome or Epileptic Encephalopathies Associated With Sodium Channel Mutations No longer available NCT02239276 Stiripentol
44 Turmeric as Treatment in Epilepsy Withdrawn NCT03254680
45 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Withdrawn NCT02910297

Search NIH Clinical Center for Early Myoclonic Encephalopathy

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Clonazepam
Clonazepam
Levetiracetam
Nitrazepam

Cochrane evidence based reviews: epilepsies, myoclonic

Genetic Tests for Early Myoclonic Encephalopathy

Genetic tests related to Early Myoclonic Encephalopathy:

# Genetic test Affiliating Genes
1 Early Myoclonic Encephalopathy 29 SLC25A22

Anatomical Context for Early Myoclonic Encephalopathy

MalaCards organs/tissues related to Early Myoclonic Encephalopathy:

41
Brain, Temporal Lobe, Skin, Eye, Cortex, Thalamus, Testes

Publications for Early Myoclonic Encephalopathy

Articles related to Early Myoclonic Encephalopathy:

(show top 50) (show all 2464)
# Title Authors PMID Year
1
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. 9 38
20351042 2010
2
Mutations in GABAA receptor subunits associated with genetic epilepsies. 9 38
20308251 2010
3
Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. 9 38
19563458 2010
4
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. 9 38
19734009 2009
5
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 9 38
19763161 2009
6
Dravet syndrome. 9 38
19737414 2009
7
Digenic mutations in severe myoclonic epilepsy of infancy. 9 38
19359143 2009
8
Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations. 9 38
19666879 2009
9
Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy. 9 38
19303743 2009
10
Clinical spectrum of SCN1A mutations. 9 38
19469841 2009
11
Molecular basis of severe myoclonic epilepsy in infancy. 9 38
19203854 2009
12
[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]. 9 38
19350499 2009
13
A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. 9 38
18755274 2008
14
[Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy]. 9 38
19099883 2008
15
Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. 9 38
18479393 2008
16
[ARX--one gene--many phenotypes]. 9 38
18975239 2008
17
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. 9 38
18554359 2008
18
[Epilepsy in Israel--2008]. 9 38
18357670 2008
19
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 9 38
17561957 2007
20
Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination. 9 38
17433057 2007
21
Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report. 9 38
17129991 2006
22
Role of genetics in the diagnosis and treatment of epilepsy. 9 38
17181426 2006
23
SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. 9 38
17054696 2006
24
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. 9 38
17054685 2006
25
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. 9 38
17054697 2006
26
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 9 38
17054684 2006
27
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 9 38
17030758 2006
28
Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. 9 38
17065438 2006
29
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. 9 38
17000989 2006
30
Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. 9 38
16806826 2006
31
Na channel gene mutations in epilepsy--the functional consequences. 9 38
16806834 2006
32
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. 9 38
16713920 2006
33
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. 9 38
16541393 2006
34
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. 9 38
16430863 2006
35
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. 9 38
16458823 2006
36
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. 9 38
16210358 2005
37
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. 9 38
16122630 2005
38
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. 9 38
15944908 2005
39
Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. 9 38
15508916 2005
40
Seizures of idiopathic generalized epilepsies. 9 38
16302874 2005
41
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. 9 38
15263074 2004
42
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. 9 38
15087100 2004
43
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. 9 38
15028761 2004
44
Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong. 9 38
14967857 2004
45
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. 9 38
14631200 2003
46
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. 9 38
14672992 2003
47
Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations? 9 38
13129592 2003
48
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. 9 38
14504318 2003
49
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. 9 38
12821740 2003
50
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. 9 38
12754708 2003

Variations for Early Myoclonic Encephalopathy

ClinVar genetic disease variations for Early Myoclonic Encephalopathy:

6 (show top 50) (show all 251)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A22 NM_001191061.2(SLC25A22): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs797045969 11:792722-792722 11:792722-792722
2 SLC25A22 NM_001191061.2(SLC25A22): c.811_812TG[1] (p.Ala272fs) short repeat Pathogenic 11:792146-792147 11:792146-792147
3 SLC25A22 NM_001191061.2(SLC25A22): c.818G> A (p.Arg273Lys) single nucleotide variant Pathogenic 11:792142-792142 11:792142-792142
4 SLC25A22 NM_001191061.2(SLC25A22): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121918334 11:792429-792429 11:792429-792429
5 SLC25A22 NM_001191061.2(SLC25A22): c.706G> T (p.Gly236Trp) single nucleotide variant Pathogenic rs121918335 11:792340-792340 11:792340-792340
6 SLC25A22 NM_001191061.2(SLC25A22): c.328G> C (p.Gly110Arg) single nucleotide variant Pathogenic rs587777243 11:792954-792954 11:792954-792954
7 SLC25A22 NM_001191061.2(SLC25A22): c.394C> T (p.Gln132Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1554965669 11:792888-792888 11:792888-792888
8 SLC25A22 NM_001191061.2(SLC25A22): c.151G> A (p.Asp51Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116134953 11:794509-794509 11:794509-794509
9 SLC25A22 NM_001191061.2(SLC25A22): c.413-8G> C single nucleotide variant Conflicting interpretations of pathogenicity rs376015598 11:792735-792735 11:792735-792735
10 SLC25A22 NM_001191061.2(SLC25A22): c.*34A> G single nucleotide variant Uncertain significance rs74994790 11:791881-791881 11:791881-791881
11 SLC25A22 NM_001191061.2(SLC25A22): c.897C> T (p.Phe299=) single nucleotide variant Uncertain significance rs7124179 11:791990-791990 11:791990-791990
12 SLC25A22 NM_001191061.2(SLC25A22): c.474C> T (p.Pro158=) single nucleotide variant Uncertain significance rs556959164 11:792666-792666 11:792666-792666
13 SLC25A22 NM_001191061.2(SLC25A22): c.179A> G (p.Glu60Gly) single nucleotide variant Uncertain significance rs587784387 11:794481-794481 11:794481-794481
14 CHRNA2 NM_000742.4(CHRNA2): c.202C> T (p.Arg68Trp) single nucleotide variant Uncertain significance rs376970816 8:27327370-27327370 8:27469853-27469853
15 SLC25A22 NM_001191061.2(SLC25A22): c.124G> A (p.Gly42Ser) single nucleotide variant Uncertain significance rs535927522 11:794798-794798 11:794798-794798
16 JMJD1C NM_032776.3(JMJD1C): c.4102T> A (p.Ser1368Thr) single nucleotide variant Uncertain significance rs747127923 10:64967327-64967327 10:63207567-63207567
17 JMJD1C NM_032776.3(JMJD1C): c.5533A> C (p.Met1845Leu) single nucleotide variant Uncertain significance rs905988373 10:64957282-64957282 10:63197522-63197522
18 JMJD1C NM_032776.3(JMJD1C): c.3265C> T (p.Pro1089Ser) single nucleotide variant Uncertain significance rs200160728 10:64968164-64968164 10:63208404-63208404
19 JMJD1C NM_032776.3(JMJD1C): c.3093T> G (p.Asp1031Glu) single nucleotide variant Uncertain significance rs1397945403 10:64968336-64968336 10:63208576-63208576
20 JMJD1C NM_032776.3(JMJD1C): c.1611G> A (p.Met537Ile) single nucleotide variant Uncertain significance rs897135842 10:64974316-64974316 10:63214556-63214556
21 SCN1A NM_006920.6(SCN1A): c.1889G> C (p.Arg630Pro) single nucleotide variant Uncertain significance 2:166900333-166900333 2:166043823-166043823
22 KCND2 NM_012281.3(KCND2): c.64G> C (p.Val22Leu) single nucleotide variant Uncertain significance 7:119914750-119914750 7:120274696-120274696
23 KCND2 NM_012281.3(KCND2): c.296A> G (p.Tyr99Cys) single nucleotide variant Uncertain significance 7:119914982-119914982 7:120274928-120274928
24 KCND2 NM_012281.3(KCND2): c.299G> T (p.Arg100Leu) single nucleotide variant Uncertain significance 7:119914985-119914985 7:120274931-120274931
25 KCND2 NM_012281.3(KCND2): c.322C> T (p.Arg108Cys) single nucleotide variant Uncertain significance 7:119915008-119915008 7:120274954-120274954
26 KCND2 NM_012281.3(KCND2): c.385A> G (p.Ile129Val) single nucleotide variant Uncertain significance 7:119915071-119915071 7:120275017-120275017
27 KCND2 NM_012281.3(KCND2): c.646A> G (p.Ile216Val) single nucleotide variant Uncertain significance 7:119915332-119915332 7:120275278-120275278
28 KCND2 NM_012281.3(KCND2): c.652G> C (p.Glu218Gln) single nucleotide variant Uncertain significance 7:119915338-119915338 7:120275284-120275284
29 KCND2 NM_012281.3(KCND2): c.989C> T (p.Ser330Leu) single nucleotide variant Uncertain significance 7:119915675-119915675 7:120275621-120275621
30 KCND2 NM_012281.3(KCND2): c.1411G> C (p.Gly471Arg) single nucleotide variant Uncertain significance 7:120382600-120382600 7:120742546-120742546
31 JMJD1C NM_032776.3(JMJD1C): c.7462G> A (p.Val2488Ile) single nucleotide variant Uncertain significance 10:64928266-64928266 10:63168506-63168506
32 JMJD1C NM_032776.3(JMJD1C): c.7433C> T (p.Thr2478Ile) single nucleotide variant Uncertain significance 10:64928295-64928295 10:63168535-63168535
33 JMJD1C NM_032776.3(JMJD1C): c.7374T> A (p.Ile2458=) single nucleotide variant Uncertain significance 10:64936084-64936084 10:63176324-63176324
34 JMJD1C NM_032776.3(JMJD1C): c.7372A> G (p.Ile2458Val) single nucleotide variant Uncertain significance 10:64936086-64936086 10:63176326-63176326
35 JMJD1C NM_032776.3(JMJD1C): c.7273C> G (p.Arg2425Gly) single nucleotide variant Uncertain significance 10:64936185-64936185 10:63176425-63176425
36 JMJD1C NM_032776.3(JMJD1C): c.7195G> A (p.Val2399Ile) single nucleotide variant Uncertain significance 10:64937506-64937506 10:63177746-63177746
37 JMJD1C NM_032776.3(JMJD1C): c.6891C> G (p.Phe2297Leu) single nucleotide variant Uncertain significance 10:64944438-64944438 10:63184678-63184678
38 JMJD1C NM_032776.3(JMJD1C): c.6443A> G (p.Asp2148Gly) single nucleotide variant Uncertain significance 10:64949055-64949055 10:63189295-63189295
39 JMJD1C NM_032776.3(JMJD1C): c.6433T> G (p.Ser2145Ala) single nucleotide variant Uncertain significance 10:64949065-64949065 10:63189305-63189305
40 JMJD1C NM_032776.3(JMJD1C): c.6327T> A (p.Leu2109=) single nucleotide variant Uncertain significance 10:64949171-64949171 10:63189411-63189411
41 JMJD1C NM_032776.3(JMJD1C): c.5779T> C (p.Tyr1927His) single nucleotide variant Uncertain significance 10:64953188-64953188 10:63193428-63193428
42 JMJD1C NM_032776.3(JMJD1C): c.5758A> G (p.Met1920Val) single nucleotide variant Uncertain significance 10:64953209-64953209 10:63193449-63193449
43 JMJD1C NM_032776.3(JMJD1C): c.5395A> G (p.Ile1799Val) single nucleotide variant Uncertain significance 10:64958369-64958369 10:63198609-63198609
44 JMJD1C NM_032776.3(JMJD1C): c.5072A> G (p.Asn1691Ser) single nucleotide variant Uncertain significance 10:64966357-64966357 10:63206597-63206597
45 JMJD1C NM_032776.3(JMJD1C): c.4913C> T (p.Ser1638Leu) single nucleotide variant Uncertain significance 10:64966516-64966516 10:63206756-63206756
46 JMJD1C NM_032776.3(JMJD1C): c.4793T> C (p.Val1598Ala) single nucleotide variant Uncertain significance 10:64966636-64966636 10:63206876-63206876
47 JMJD1C NM_032776.3(JMJD1C): c.4734T> G (p.Ile1578Met) single nucleotide variant Uncertain significance 10:64966695-64966695 10:63206935-63206935
48 JMJD1C NM_032776.3(JMJD1C): c.4613_4623delinsTATGT (p.Ala1538_Thr1541delinsValCys) indel Uncertain significance 10:64966806-64966816 10:63207046-63207056
49 JMJD1C NM_032776.3(JMJD1C): c.4579A> G (p.Ile1527Val) single nucleotide variant Uncertain significance 10:64966850-64966850 10:63207090-63207090
50 JMJD1C NM_032776.3(JMJD1C): c.4532C> G (p.Thr1511Arg) single nucleotide variant Uncertain significance 10:64966897-64966897 10:63207137-63207137

Copy number variations for Early Myoclonic Encephalopathy from CNVD:

7
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.41 GABRG2 GABRB2
2 10.4 GABRG2 GABRB2 CHRNA4
3 10.19 GABRG2 GABRB2

GO Terms for Early Myoclonic Encephalopathy

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

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.77 KCND2 GABRG2 GABRB2 CHRNA4 CDKL5
2 postsynaptic membrane GO:0045211 9.46 KCND2 GABRG2 GABRB2 CHRNA4
3 GABA-A receptor complex GO:1902711 9.4 GABRG2 GABRB2
4 node of Ranvier GO:0033268 9.32 SCN1B SCN1A
5 voltage-gated sodium channel complex GO:0001518 9.26 SCN1B SCN1A
6 GABA-ergic synapse GO:0098982 9.13 KCND2 GABRG2 GABRB2
7 sodium channel complex GO:0034706 8.62 SCN1B SCN1A

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.76 SCN1A GABRG2 GABRB2 CHRNA4
2 regulation of membrane potential GO:0042391 9.56 SCN1A GABRG2 GABRB2 CHRNA4
3 gamma-aminobutyric acid signaling pathway GO:0007214 9.54 GABRG2 GABRB2
4 membrane depolarization GO:0051899 9.52 SCN1B CHRNA4
5 regulation of sodium ion transport GO:0002028 9.51 SIK1 SCN1B
6 nervous system process GO:0050877 9.5 GABRG2 GABRB2 CHRNA4
7 ion transport GO:0006811 9.5 SLC25A22 SCN1B SCN1A KCND2 GABRG2 GABRB2
8 action potential GO:0001508 9.49 KCND2 CHRNA4
9 cardiac muscle cell action potential involved in contraction GO:0086002 9.48 SCN1B SCN1A
10 chemical synaptic transmission GO:0007268 9.46 KCND2 GABRG2 GABRB2 CHRNA4
11 synaptic transmission, GABAergic GO:0051932 9.43 GABRG2 GABRB2
12 neuronal action potential propagation GO:0019227 9.4 SCN1B SCN1A
13 cellular response to histamine GO:0071420 9.37 GABRG2 GABRB2
14 regulation of postsynaptic membrane potential GO:0060078 8.92 KCND2 GABRG2 GABRB2 CHRNA4

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.54 SCN1B SCN1A KCND2
2 voltage-gated sodium channel activity GO:0005248 9.32 SCN1B SCN1A
3 GABA-A receptor activity GO:0004890 9.26 GABRG2 GABRB2
4 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.16 GABRG2 GABRB2
5 extracellular ligand-gated ion channel activity GO:0005230 9.13 GABRG2 GABRB2 CHRNA4
6 ion channel activity GO:0005216 9.02 SCN1A KCND2 GABRG2 GABRB2 CHRNA4

Sources for Early Myoclonic Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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38 LifeMap
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42 MedGen
44 MeSH
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46 MGI
49 NCI
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51 NDF-RT
54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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