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MCID: ERL001
MIFTS: 62

Early Myoclonic Encephalopathy

Categories: Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Early Myoclonic Encephalopathy

About this section

MalaCards integrated aliases for Early Myoclonic Encephalopathy:

Name: Early Myoclonic Encephalopathy 12 58 36 29 6 15 70
Myoclonic Epilepsy 12 73 29 6 17
Epilepsies, Myoclonic 44 70
Myoclonic Seizure 12 54
Early Myoclonic Encephalopathy with Suppression-Bursts 58
Epileptic Seizures - Myoclonic 12
Epileptic Seizures, Myoclonic 12
Myoclonic Seizure Disorder 12
Myoclonia Epileptica 12
Myoclonic Seizures 6

Characteristics:

Orphanet epidemiological data:

58
early myoclonic encephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:308
KEGG 36 H01819
MeSH 44 D004831
ICD10 via Orphanet 33 G40.4
UMLS via Orphanet 71 C0270855
Orphanet 58 ORPHA1935
UMLS 70 C0014550 C0270855
Sources

Summaries for Early Myoclonic Encephalopathy

About this section
KEGG : 36 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 unverricht and lundborg and epilepsy, myoclonic juvenile, 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 Neuroscience and L1CAM interactions. The drugs Levetiracetam and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and liver, and related phenotypes are myoclonus and infantile spasms

Wikipedia : 73 Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. When myoclonic jerks... more...

Sources

Related Diseases for Early Myoclonic Encephalopathy

About this section

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

(show top 50) (show all 469)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of unverricht and lundborg 33.6 SLC7A6OS EPM2A CSTB ADSL
2 epilepsy, myoclonic juvenile 33.6 SCN1B SCN1A KCNQ2 GABRG2 GABRB2 EPM2A
3 myoclonic epilepsy of lafora 33.2 SCN1B EPM2A CSTB
4 unverricht-lundborg syndrome 33.0 SCN1B SCN1A KCNQ2 GABRG2 EPM2A CSTB
5 developmental and epileptic encephalopathy 3 32.9 SLC25A22 KCND2
6 myoclonic epilepsy of infancy 32.7 SCN1A GABRG2
7 epilepsy, idiopathic generalized 32.4 SCN1B SCN1A KCNQ2 GABRG2 CHRNA4 CDKL5
8 progressive myoclonus epilepsy 32.4 SLC7A6OS SCN1A EPM2A CSTB
9 developmental and epileptic encephalopathy 1 32.3 SLC25A22 SCN1A KCNQ2 CDKL5 ARX
10 juvenile absence epilepsy 32.2 SCN1A GABRG2 CHRNA4
11 generalized epilepsy with febrile seizures plus 32.2 SCN1B SCN1A KCNQ2 GABRG2 GABRB2 CHRNA4
12 dentatorubral-pallidoluysian atrophy 32.1 EPM2A CSTB ATN1
13 progressive myoclonus epilepsy 4 32.1 GBA CSTB
14 generalized epilepsy with febrile seizures plus, type 1 32.0 SCN1B SCN1A
15 encephalopathy 31.8 SLC25A22 SCN1A KCNQ2 CSTB CDKL5 ARX
16 myoclonus epilepsy 31.6 EPM2A CSTB
17 childhood absence epilepsy 31.3 SCN1B SCN1A KCNQ2 GABRG2 GABRB2 CHRNA4
18 seizure disorder 31.2 SCN1B SCN1A KCNQ2 GABRG2 CHRNA4 CDKL5
19 west syndrome 31.2 SLC25A22 SIK1 SCN1B SCN1A KCNQ2 GABRG2
20 ohtahara syndrome 31.1 SLC25A22 SCN1A KCNQ2 CDKL5 ARX
21 reflex epilepsy 31.0 SCN1A GABRG2 CHRNA4
22 early infantile epileptic encephalopathy 31.0 SLC25A22 SIK1 SCN1B SCN1A KCNQ2 GABRG2
23 epilepsy with generalized tonic-clonic seizures 31.0 SCN1B SCN1A GABRG2 CSTB CDKL5
24 developmental and epileptic encephalopathy 30.9 SLC25A22 SCN1A KCNQ2 GABRB2 CDKL5
25 generalized epilepsy with febrile seizures plus, type 2 30.8 SCN1B SCN1A GABRG2
26 dystonia 30.8 KCNQ2 GABRG2 CSTB ATN1 ARX
27 photosensitive epilepsy 30.7 SCN1B SCN1A KCNQ2 GABRG2
28 febrile seizures 30.7 SCN1B SCN1A KCNQ2 GABRG2
29 focal epilepsy 30.6 SCN1A GABRG2 CHRNA4 CDKL5
30 benign epilepsy with centrotemporal spikes 30.5 SCN1B SCN1A KCNQ2 GABRG2 EPM2A CSTB
31 lennox-gastaut syndrome 30.5 SLC25A22 SCN1B SCN1A KCNQ2 GABRG2 GABRB2
32 landau-kleffner syndrome 30.5 SCN1A KCNQ2 GABRG2
33 dravet syndrome 30.5 SLC25A22 SCN1B SCN1A KCNQ2 GABRG2 GABRB2
34 alacrima, achalasia, and mental retardation syndrome 30.5 SCN1A KCNQ2 GABRG2 GABRB2 CDKL5 ARX
35 developmental and epileptic encephalopathy 13 30.5 SCN1B SCN1A
36 epilepsy, nocturnal frontal lobe, 1 30.5 SCN1B SCN1A KCNQ2 GABRG2 CHRNA4
37 benign familial neonatal epilepsy 30.4 SCN1B SCN1A KCNQ2 GABRG2 CHRNA4 CDKL5
38 autosomal dominant nocturnal frontal lobe epilepsy 30.4 SCN1B SCN1A KCNQ2 KCND2 GABRG2 CSTB
39 disease of mental health 30.3 SCN1A KCNQ2 KCND2 GBA GABRG2 GABRB2
40 autism 30.3 SCN1A KCND2 JMJD1C GABRG2 CHRNA4 CDKL5
41 epilepsy 30.3 SLC7A6OS SLC25A22 SCN1B SCN1A KCNQ2 KCND2
42 pervasive developmental disorder 30.2 SCN1A KCND2 CDKL5
43 spinal muscular atrophy with progressive myoclonic epilepsy 11.9
44 myoclonic epilepsy associated with ragged-red fibers 11.8
45 epilepsy, familial adult myoclonic, 2 11.7
46 myoclonic epilepsy, familial infantile 11.7
47 familial adult myoclonic epilepsy 11.6
48 epilepsy, familial adult myoclonic, 1 11.6
49 epilepsy, familial adult myoclonic, 6 11.6
50 epilepsy, familial adult myoclonic, 7 11.6

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



Diseases related to Early Myoclonic Encephalopathy
Sources

Symptoms & Phenotypes for Early Myoclonic Encephalopathy

About this section

Human phenotypes related to Early Myoclonic Encephalopathy:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
2 infantile spasms 58 31 hallmark (90%) Very frequent (99-80%) HP:0012469
3 epileptic encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0200134
4 eyelid myoclonias 58 31 hallmark (90%) Very frequent (99-80%) HP:0011168
5 generalized myoclonic seizure 31 hallmark (90%) HP:0002123
6 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
7 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
8 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
9 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
10 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
11 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
12 hypotonia 31 frequent (33%) HP:0001252
13 focal tonic seizure 31 frequent (33%) HP:0011167
14 hypsarrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002521
15 eeg abnormality 58 Very frequent (99-80%)
16 muscular hypotonia 58 Frequent (79-30%)
17 generalized myoclonic seizures 58 Very frequent (99-80%)
18 feeding difficulties 58 Frequent (79-30%)
19 focal motor seizure 58 Very frequent (99-80%)
20 focal tonic seizures 58 Frequent (79-30%)

UMLS symptoms related to Early Myoclonic Encephalopathy:


myoclonus; muscle spasticity; myoclonic seizures

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

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.85 EPM2A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.85 CSTB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.85 CSTB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.85 CSTB SCN1B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.85 CSTB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.85 SCN1B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.85 SCN1B
8 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.85 EPM2A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.85 SCN1B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.85 SCN1B
11 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.85 EPM2A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.85 CSTB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.85 SCN1B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.85 SCN1A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.85 SCN1A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.85 SCN1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.85 SCN1B
18 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.85 CSTB EPM2A SCN1A SCN1B
19 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.85 SCN1A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.85 SCN1B
21 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.85 SCN1A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.85 CSTB
23 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.85 SCN1B
24 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.85 SLC25A22
25 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.85 SCN1B
26 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.85 EPM2A
27 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.85 SCN1B
28 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.85 SLC25A22
29 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.85 SCN1A
30 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.85 SLC25A22

MGI Mouse Phenotypes related to Early Myoclonic Encephalopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 ARX ATN1 CDKL5 CHRNA4 CSTB EPM2A
2 nervous system MP:0003631 9.47 ADSL ARX ATN1 CDKL5 CHRNA4 CSTB
Sources

Drugs & Therapeutics for Early Myoclonic Encephalopathy

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levetiracetam Approved Phase 3 102767-28-2 441341
2
Ethanol Approved Phase 3 64-17-5 702
3 Strawberry Approved Phase 3
4
tannic acid Approved Phase 3 1401-55-4
5
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
6
Fenfluramine Approved, Illicit, Investigational, Withdrawn Phase 3 458-24-2 3337
7
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
8 Nootropic Agents Phase 3
9 Serotonin Uptake Inhibitors Phase 3
10 Hormones Phase 3
11 calcium channel blockers Phase 3
12 Calcium, Dietary Phase 3
13
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
14
Calcium Nutraceutical Phase 3 7440-70-2 271
15
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
16
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
17
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
18
Verapamil Approved Phase 2 52-53-9 2520
19 Dopamine Agents Phase 2
20 Dopamine agonists Phase 2
21 Antiparkinson Agents Phase 2
22 Anti-Arrhythmia Agents Phase 2
23 Vasodilator Agents Phase 2
24
Stiripentol Approved 49763-96-4

Interventional clinical trials:

(show all 49)
# Name Status NCT ID Phase Drugs
1 A Double-blind, Multicenter, Randomized, Placebo-controlled Study to Evaluate the Efficacy and Safety of Levetiracetam (LEV) (Oral Tablets of 500 mg b.i.d.) at a Dose of 3000 mg/Day as Adjunctive Treatment in Adolescents (≥ 12 Years) and Adults (≤ 65 Years) Suffering From Idiopathic Generalized Epilepsy With Myoclonic Seizures. Completed NCT00150774 Phase 3 Levetiracetam
2 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
3 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. Completed NCT02224573 Phase 3 GWP42003-P
4 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
5 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
6 A Multicenter, Double-Blind, Randomized, Placebo-Controlled, Parallel-Group Study With Open-Label Extension Phase of Lorcaserin as Adjunctive Treatment in Subjects With Dravet Syndrome Recruiting NCT04572243 Phase 3 Placebo;Lorcaserin
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 Recruiting NCT02826863 Phase 3 ZX008 - 0.8 mg/kg/day;ZX008 - 0.2 mg/kg/day;Placebo
8 A Prospective Multi-Center Single-Arm Clinical Trial on Cognitive Effect of Cannabidiol (CBD-OS®) on Dravet Syndrome and Lennox-Gastaut Syndrome Recruiting NCT04611438 Phase 3 Cannabidiol
9 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
10 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)
11 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)
12 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)
13 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
14 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
15 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
16 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
17 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
18 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Aged 15-50: A Randomized Controlled Trial Unknown status NCT01450423 Phase 2
19 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
20 Verapamil as Adjunctive Seizure Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
21 A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies Completed NCT03650452 Phase 2 TAK-935;Placebo
22 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
23 An Open-Label Study to Investigate the Safety and Pharmacokinetics of Single and Multiple Ascending Doses of Antisense Oligonucleotide STK-001 in Children and Adolescents With Dravet Syndrome Recruiting NCT04442295 Phase 1, Phase 2 STK-001 - Single Ascending Doses;STK-001 - Multiple Ascending Doses
24 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
25 A 20-Week Multicenter, Randomized, Double-Blind, Placebo- Controlled, Proof of Concept Trial of EPX-100 (Clemizole Hydrochloride) as Adjunctive Therapy in Children With Dravet Syndrome Recruiting NCT04462770 Phase 2 EPX-100 (Clemizole HCl);Placebo
26 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
27 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
28 An Open-Label Extension Study for Patients With Dravet Syndrome Who Previously Participated in Studies of STK-001 Enrolling by invitation NCT04740476 Phase 2 STK-001
29 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children Terminated NCT02815540 Phase 1, Phase 2 Cannabidiol
30 A Phase I, Placebo-Controlled, Double-Blind, 2-Period Study to Assess Safety and Pharmacokinetics of Escalating Single and Multiple Oral Doses of EPX-100 in Fasting Healthy Subjects and Following a High-Fat Meal Completed NCT04069689 Phase 1 EPX-100 (Clemizole Hydrochloride);Placebos
31 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Approved for marketing NCT01983722 Stiripentol
32 Cardiac Arrhythmias in Dravet Syndrome: an Observational, International, Multicentre Study Completed NCT02415686
33 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Completed NCT02229032
34 Effects of Levetiracetam on Cortical Excitability in Humans Completed NCT00006191
35 Biology of Juvenile Myoclonic Epilepsy Recruiting NCT03400371
36 Neuronal Excitability of Hyperpolarization-activated Cyclic Nucleotide-gated (HCN1) Channel Mutations in Dravet Syndrome Recruiting NCT02896608
37 ENVISION: Natural History Study of Infants and Children With SCN1A-positive Dravet Syndrome Recruiting NCT04537832
38 Transcranial Magnetic Stimulation to Measure Cortical Excitability in Dravet Syndrome Recruiting NCT04614506
39 Genetics of Epilepsy and Related Disorders Recruiting NCT01858285
40 Treatment of Gait Disorders in Children With Dravet Syndrome Active, not recruiting NCT03857451
41 Extended Access Program and Retrospective Chart Review for Lorcaserin in Dravet Syndrome and Other Refractory Epilepsies Available NCT04457687 Lorcaserin
42 ZX008 Expanded Access Protocol - Dravet Syndrome Treatment Plan Available NCT03780127 Fenfluramine Hydrochloride
43 Treatment of Dravet Syndrome With Fenfluramine (Expanded Access Protocol) Available NCT04437004 Fenfluramine
44 The Becoming of Children With Doose Syndrome Not yet recruiting NCT04048213
45 Compassionate Use of Stiripentol in Intractable Epilepsy Due to Dravet Syndrome No longer available NCT01533506 stiripentol
46 Expanded Access Use of Stiripentol in Participants With Dravet Syndrome or Epileptic Encephalopathies Associated With Sodium Channel Mutations No longer available NCT02239276 Stiripentol
47 Compassionate Use of Stiripentol in Dravet Syndrome No longer available NCT01835314 Stiripentol
48 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Withdrawn NCT02910297
49 Turmeric as Treatment in Epilepsy Withdrawn NCT03254680

Search NIH Clinical Center for Early Myoclonic Encephalopathy

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Clonazepam

Cochrane evidence based reviews: epilepsies, myoclonic

Sources

Genetic Tests for Early Myoclonic Encephalopathy

About this section

Genetic tests related to Early Myoclonic Encephalopathy:

# Genetic test Affiliating Genes
1 Early Myoclonic Encephalopathy 29
2 Myoclonic Epilepsy 29
Sources

Anatomical Context for Early Myoclonic Encephalopathy

About this section

MalaCards organs/tissues related to Early Myoclonic Encephalopathy:

40
Brain, Temporal Lobe, Liver, Heart, Eye, Cortex, Thalamus
Sources

Publications for Early Myoclonic Encephalopathy

About this section

Articles related to Early Myoclonic Encephalopathy:

(show top 50) (show all 2656)
# Title Authors PMID Year
1
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. 61 6
15592994 2005
2
Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening. 6
29581270 2018
3
Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation. 6
24501278 2014
4
SLC25A22 is a novel gene for migrating partial seizures in infancy. 6
24596948 2013
5
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. 6
19780765 2009
6
Mutations in GABAA receptor subunits associated with genetic epilepsies. 61 54
20308251 2010
7
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. 54 61
20351042 2010
8
Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. 54 61
19563458 2010
9
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. 61 54
19734009 2009
10
Dravet syndrome. 61 54
19737414 2009
11
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 54 61
19763161 2009
12
Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations. 54 61
19666879 2009
13
Digenic mutations in severe myoclonic epilepsy of infancy. 61 54
19359143 2009
14
Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy. 54 61
19303743 2009
15
Molecular basis of severe myoclonic epilepsy in infancy. 61 54
19203854 2009
16
Clinical spectrum of SCN1A mutations. 61 54
19469841 2009
17
[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]. 61 54
19350499 2009
18
A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. 54 61
18755274 2008
19
[Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy]. 61 54
19099883 2008
20
Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. 54 61
18479393 2008
21
[ARX--one gene--many phenotypes]. 54 61
18975239 2008
22
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. 61 54
18554359 2008
23
[Epilepsy in Israel--2008]. 61 54
18357670 2008
24
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 61 54
17561957 2007
25
Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination. 61 54
17433057 2007
26
Role of genetics in the diagnosis and treatment of epilepsy. 61 54
17181426 2006
27
Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report. 61 54
17129991 2006
28
Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. 61 54
17065438 2006
29
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. 61 54
17054697 2006
30
SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. 54 61
17054696 2006
31
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 61 54
17030758 2006
32
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 54 61
17054684 2006
33
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. 61 54
17054685 2006
34
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. 61 54
17000989 2006
35
Na channel gene mutations in epilepsy--the functional consequences. 54 61
16806834 2006
36
Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. 61 54
16806826 2006
37
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. 54 61
16713920 2006
38
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. 54 61
16541393 2006
39
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. 54 61
16430863 2006
40
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. 54 61
16458823 2006
41
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. 61 54
16210358 2005
42
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. 54 61
16122630 2005
43
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. 54 61
15944908 2005
44
Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. 54 61
15508916 2005
45
Seizures of idiopathic generalized epilepsies. 61 54
16302874 2005
46
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. 61 54
15263074 2004
47
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. 61 54
15087100 2004
48
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. 54 61
15028761 2004
49
Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong. 54 61
14967857 2004
50
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. 54 61
14631200 2003
Sources

Variations for Early Myoclonic Encephalopathy

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ClinVar genetic disease variations for Early Myoclonic Encephalopathy:

6 (show top 50) (show all 783)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A22 NM_001191061.2(SLC25A22):c.706G>T (p.Gly236Trp) SNV Pathogenic 1776 rs121918335 GRCh37: 11:792340-792340
GRCh38: 11:792340-792340
2 SLC25A22 NM_001191061.2(SLC25A22):c.328G>C (p.Gly110Arg) SNV Pathogenic 120308 rs587777243 GRCh37: 11:792954-792954
GRCh38: 11:792954-792954
3 SLC25A22 NM_001191061.2(SLC25A22):c.418C>T (p.Gln140Ter) SNV Pathogenic 212198 rs797045969 GRCh37: 11:792722-792722
GRCh38: 11:792722-792722
4 ADSL NM_000026.4(ADSL):c.421C>T (p.Arg141Trp) SNV Pathogenic 204815 rs756210458 GRCh37: 22:40750270-40750270
GRCh38: 22:40354266-40354266
5 ADSL NM_000026.4(ADSL):c.340T>C (p.Tyr114His) SNV Pathogenic 204807 rs374259530 GRCh37: 22:40746022-40746022
GRCh38: 22:40350018-40350018
6 SLC25A22 NM_001191061.2(SLC25A22):c.818G>A (p.Arg273Lys) SNV Pathogenic 626258 rs1195505218 GRCh37: 11:792142-792142
GRCh38: 11:792142-792142
7 SLC25A22 NM_001191061.2(SLC25A22):c.811_812TG[1] (p.Ala272fs) Microsatellite Pathogenic 618891 GRCh37: 11:792146-792147
GRCh38: 11:792146-792147
8 KCND2 NM_012281.3(KCND2):c.1210G>A (p.Val404Met) SNV Pathogenic 144007 rs587777631 GRCh37: 7:120373051-120373051
GRCh38: 7:120732997-120732997
9 SLC25A22 NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp) SNV Likely pathogenic 569303 rs1388811021 GRCh37: 11:792206-792206
GRCh38: 11:792206-792206
10 SLC25A22 NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter) SNV Likely pathogenic 436749 rs1554965669 GRCh37: 11:792888-792888
GRCh38: 11:792888-792888
11 SLC7A6OS NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg) SNV Likely pathogenic 973432 GRCh37: 16:68344639-68344639
GRCh38: 16:68310736-68310736
12 SLC25A22 NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu) SNV Likely pathogenic 1775 rs121918334 GRCh37: 11:792429-792429
GRCh38: 11:792429-792429
13 ST3GAL3 NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) SNV Uncertain significance 198193 rs201287443 GRCh37: 1:44360114-44360114
GRCh38: 1:43894442-43894442
14 SCN1A NM_001165963.4(SCN1A):c.1889G>C (p.Arg630Pro) SNV Uncertain significance 560660 rs145670933 GRCh37: 2:166900333-166900333
GRCh38: 2:166043823-166043823
15 SLC25A22 NM_001191061.2(SLC25A22):c.819-3C>T SNV Uncertain significance 306259 rs141931491 GRCh37: 11:792071-792071
GRCh38: 11:792071-792071
16 SLC25A22 NM_001191061.2(SLC25A22):c.*760G>A SNV Uncertain significance 306244 rs139397585 GRCh37: 11:791155-791155
GRCh38: 11:791155-791155
17 SLC25A22 NM_001191061.2(SLC25A22):c.*34A>G SNV Uncertain significance 159910 rs74994790 GRCh37: 11:791881-791881
GRCh38: 11:791881-791881
18 SLC25A22 NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) SNV Uncertain significance 139131 rs116134953 GRCh37: 11:794509-794509
GRCh38: 11:794509-794509
19 SLC25A22 NM_001191061.2(SLC25A22):c.179A>G (p.Glu60Gly) SNV Uncertain significance 159912 rs587784387 GRCh37: 11:794481-794481
GRCh38: 11:794481-794481
20 SLC25A22 NM_001191061.2(SLC25A22):c.413-8G>C SNV Uncertain significance 139136 rs376015598 GRCh37: 11:792735-792735
GRCh38: 11:792735-792735
21 SLC25A22 NM_001191061.2(SLC25A22):c.474C>T (p.Pro158=) SNV Uncertain significance 159916 rs556959164 GRCh37: 11:792666-792666
GRCh38: 11:792666-792666
22 SLC25A22 NM_001191061.2(SLC25A22):c.897C>T (p.Phe299=) SNV Uncertain significance 159918 rs7124179 GRCh37: 11:791990-791990
GRCh38: 11:791990-791990
23 SLC25A22 NM_001191061.2(SLC25A22):c.-93C>G SNV Uncertain significance 306272 rs886048699 GRCh37: 11:795099-795099
GRCh38: 11:795099-795099
24 SLC25A22 NM_001191061.2(SLC25A22):c.-163-989C>T SNV Uncertain significance 306284 rs753425944 GRCh37: 11:796158-796158
GRCh38: 11:796158-796158
25 SLC25A22 NM_001191061.2(SLC25A22):c.*940T>C SNV Uncertain significance 306238 rs543726213 GRCh37: 11:790975-790975
GRCh38: 11:790975-790975
26 SLC25A22 NM_001191061.2(SLC25A22):c.53C>T (p.Ala18Val) SNV Uncertain significance 306269 rs886048698 GRCh37: 11:794869-794869
GRCh38: 11:794869-794869
27 SLC25A22 NM_001191061.2(SLC25A22):c.-163-15C>T SNV Uncertain significance 306277 rs886048703 GRCh37: 11:795184-795184
GRCh38: 11:795184-795184
28 SLC25A22 NM_001191061.2(SLC25A22):c.*711G>A SNV Uncertain significance 306247 rs111723529 GRCh37: 11:791204-791204
GRCh38: 11:791204-791204
29 SLC25A22 NM_001191061.2(SLC25A22):c.*1431T>A SNV Uncertain significance 306230 rs529018067 GRCh37: 11:790484-790484
GRCh38: 11:790484-790484
30 SLC25A22 NM_001191061.2(SLC25A22):c.651G>A (p.Pro217=) SNV Uncertain significance 306264 rs768604742 GRCh37: 11:792395-792395
GRCh38: 11:792395-792395
31 SLC25A22 NM_001191061.2(SLC25A22):c.413-12C>T SNV Uncertain significance 139135 rs587781169 GRCh37: 11:792739-792739
GRCh38: 11:792739-792739
32 SLC25A22 NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) SNV Uncertain significance 139145 rs146300431 GRCh37: 11:792011-792011
GRCh38: 11:792011-792011
33 SLC25A22 NM_001191061.2(SLC25A22):c.*107G>A SNV Uncertain significance 306256 rs4963152 GRCh37: 11:791808-791808
GRCh38: 11:791808-791808
34 SLC25A22 NM_001191061.2(SLC25A22):c.-163-1026C>T SNV Uncertain significance 306285 rs868730118 GRCh37: 11:796195-796195
GRCh38: 11:796195-796195
35 SLC25A22 NM_001191061.2(SLC25A22):c.-163-947G>A SNV Uncertain significance 306282 rs374678084 GRCh37: 11:796116-796116
GRCh38: 11:796116-796116
36 SLC25A22 NM_001191061.2(SLC25A22):c.*1041C>T SNV Uncertain significance 306236 rs886048690 GRCh37: 11:790874-790874
GRCh38: 11:790874-790874
37 SLC25A22 NM_001191061.2(SLC25A22):c.-163-898G>A SNV Uncertain significance 306279 rs886048704 GRCh37: 11:796067-796067
GRCh38: 11:796067-796067
38 SLC25A22 NM_001191061.2(SLC25A22):c.*1057C>A SNV Uncertain significance 306235 rs375049082 GRCh37: 11:790858-790858
GRCh38: 11:790858-790858
39 SLC25A22 NM_001191061.2(SLC25A22):c.*1277C>T SNV Uncertain significance 306232 rs191455128 GRCh37: 11:790638-790638
GRCh38: 11:790638-790638
40 SLC25A22 NM_001191061.2(SLC25A22):c.*328C>T SNV Uncertain significance 306254 rs187161044 GRCh37: 11:791587-791587
GRCh38: 11:791587-791587
41 SLC25A22 NM_001191061.2(SLC25A22):c.*510A>G SNV Uncertain significance 306251 rs886048694 GRCh37: 11:791405-791405
GRCh38: 11:791405-791405
42 SLC25A22 NM_001191061.2(SLC25A22):c.-163-917G>C SNV Uncertain significance 306280 rs868674335 GRCh37: 11:796086-796086
GRCh38: 11:796086-796086
43 SLC25A22 NM_001191061.2(SLC25A22):c.*1084C>G SNV Uncertain significance 306234 rs768779780 GRCh37: 11:790831-790831
GRCh38: 11:790831-790831
44 SLC25A22 NM_001191061.2(SLC25A22):c.-72T>A SNV Uncertain significance 306271 rs533586625 GRCh37: 11:795078-795078
GRCh38: 11:795078-795078
45 SLC25A22 NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) SNV Uncertain significance 139140 rs147840220 GRCh37: 11:792555-792555
GRCh38: 11:792555-792555
46 SLC25A22 NM_001191061.2(SLC25A22):c.666G>A (p.Lys222=) SNV Uncertain significance 306263 rs886048695 GRCh37: 11:792380-792380
GRCh38: 11:792380-792380
47 SLC25A22 NM_001191061.2(SLC25A22):c.*693G>C SNV Uncertain significance 306249 rs375467519 GRCh37: 11:791222-791222
GRCh38: 11:791222-791222
48 SLC25A22 NM_001191061.2(SLC25A22):c.401C>T (p.Ala134Val) SNV Uncertain significance 306266 rs886048697 GRCh37: 11:792881-792881
GRCh38: 11:792881-792881
49 SLC25A22 NM_001191061.2(SLC25A22):c.-163-934C>T SNV Uncertain significance 306281 rs866357313 GRCh37: 11:796103-796103
GRCh38: 11:796103-796103
50 SLC25A22 NM_001191061.2(SLC25A22):c.327G>C (p.Ala109=) SNV Uncertain significance 306267 rs141975755 GRCh37: 11:792955-792955
GRCh38: 11:792955-792955

Copy number variations for Early Myoclonic Encephalopathy from CNVD:

7
# CNVD ID Chromosome 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
Sources

Expression for Early Myoclonic Encephalopathy

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

Pathways for Early Myoclonic Encephalopathy

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

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
12.16 SCN1B SCN1A KCNQ2 KCND2
2
L1CAM interactions 65
Show member pathways
 11.64 SCN1B SCN1A KCNQ2
3
Nicotine addiction 36
10.73 GABRG2 GABRB2 CHRNA4
4
Benzodiazepine Pathway, Pharmacodynamics 60
Show member pathways
 10.51 GABRG2 GABRB2
5
Synaptic Neurotransmission Pathways: GABAergic Inhibition 64
10.39 GABRG2 GABRB2
6
Interaction between L1 and Ankyrins 65
10.28 SCN1B SCN1A KCNQ2
Sources

GO Terms for Early Myoclonic Encephalopathy

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

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.8 KCNQ2 KCND2 GABRG2 GABRB2 CHRNA4 CDKL5
2 GABA-A receptor complex GO:1902711 9.43 GABRG2 GABRB2
3 GABA-ergic synapse GO:0098982 9.43 KCND2 GABRG2 GABRB2
4 axon initial segment GO:0043194 9.4 SCN1A KCNQ2
5 voltage-gated sodium channel complex GO:0001518 9.37 SCN1B SCN1A
6 postsynaptic membrane GO:0045211 9.26 KCND2 GABRG2 GABRB2 CHRNA4
7 sodium channel complex GO:0034706 9.16 SCN1B SCN1A
8 node of Ranvier GO:0033268 8.8 SCN1B SCN1A KCNQ2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.77 KCNQ2 KCND2 GABRG2 GABRB2 CHRNA4
2 regulation of ion transmembrane transport GO:0034765 9.73 SCN1B SCN1A KCNQ2 KCND2
3 regulation of membrane potential GO:0042391 9.71 SCN1A GABRG2 GABRB2 CHRNA4
4 membrane depolarization GO:0051899 9.56 SCN1B CHRNA4
5 nervous system process GO:0050877 9.56 GBA GABRG2 GABRB2 CHRNA4
6 ion transport GO:0006811 9.56 SLC25A22 SCN1B SCN1A KCNQ2 KCND2 GABRG2
7 regulation of sodium ion transport GO:0002028 9.55 SIK1 SCN1B
8 cardiac muscle cell action potential involved in contraction GO:0086002 9.54 SCN1B SCN1A
9 L-glutamate transmembrane transport GO:0015813 9.52 SLC25A22 EPM2A
10 synaptic transmission, GABAergic GO:0051932 9.51 GABRG2 GABRB2
11 action potential GO:0001508 9.5 SCN1A KCND2 CHRNA4
12 inhibitory synapse assembly GO:1904862 9.49 GABRG2 GABRB2
13 cellular response to histamine GO:0071420 9.48 GABRG2 GABRB2
14 neuronal action potential propagation GO:0019227 9.46 SCN1B SCN1A
15 regulation of postsynaptic membrane potential GO:0060078 9.46 KCND2 GABRG2 GABRB2 CHRNA4
16 ion transmembrane transport GO:0034220 9.17 SCN1B SCN1A KCNQ2 KCND2 GABRG2 GABRB2

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

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter receptor activity GO:0030594 9.5 GABRG2 GABRB2 CHRNA4
2 voltage-gated sodium channel activity GO:0005248 9.43 SCN1B SCN1A
3 GABA-A receptor activity GO:0004890 9.4 GABRG2 GABRB2
4 GABA-gated chloride ion channel activity GO:0022851 9.37 GABRG2 GABRB2
5 extracellular ligand-gated ion channel activity GO:0005230 9.33 GABRG2 GABRB2 CHRNA4
6 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.26 GABRG2 GABRB2
7 voltage-gated ion channel activity GO:0005244 9.26 SCN1B SCN1A KCNQ2 KCND2
8 ion channel activity GO:0005216 9.1 SCN1A KCNQ2 KCND2 GABRG2 GABRB2 CHRNA4
Sources

Sources for Early Myoclonic Encephalopathy

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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