MCID: ERL001
MIFTS: 61

Early Myoclonic Encephalopathy

Categories: Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Early Myoclonic Encephalopathy

MalaCards integrated aliases for Early Myoclonic Encephalopathy:

Name: Early Myoclonic Encephalopathy 11 58 28 5 14 71 75
Myoclonic Epilepsy 11 75 5 16
Epilepsies, Myoclonic 43 71
Myoclonic Seizure 11 53
Early Myoclonic Encephalopathy with Suppression-Bursts 58
Epileptic Seizures - Myoclonic 11
Epileptic Seizures, Myoclonic 11
Myoclonic Seizure Disorder 11
Myoclonia Epileptica 11

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:308
MeSH 43 D004831
ICD10 via Orphanet 32 G40.4
UMLS via Orphanet 72 C0270855
Orphanet 58 ORPHA1935
UMLS 71 C0014550 C0270855

Summaries for Early Myoclonic Encephalopathy

Orphanet: 58 A rare disorder characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.

MalaCards based summary: Early Myoclonic Encephalopathy, also known as myoclonic epilepsy, is related to epilepsy, myoclonic juvenile 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 is Dravet syndrome. The drugs Liver Extracts and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and temporal lobe, and related phenotypes are myoclonus and infantile spasms

Wikipedia 75 Early myoclonic encephalopathy: Early myoclonic encephalopathy (EME) is a rare neonatal-onset epilepsy developmental and epileptic... more...

Myoclonic epilepsy: Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. It starts in both sides... 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 513)
# Related Disease Score Top Affiliating Genes
1 epilepsy, myoclonic juvenile 33.7 SCN1B SCN1A GABRG2 EPM2A CSTB CHRNA4
2 myoclonic epilepsy of unverricht and lundborg 33.6 TBC1D24 EPM2A CSTB
3 myoclonic epilepsy associated with ragged-red fibers 33.4 SDHB MT-ND5 CSTB COX5A
4 myoclonic epilepsy of lafora 33.4 SCN1A EPM2A CSTB
5 familial adult myoclonic epilepsy 33.1 CSTB ATN1 ARX
6 unverricht-lundborg syndrome 33.1 SCN1B SCN1A EPM2A CSTB CHRNA4
7 progressive myoclonus epilepsy 6 32.9 EPM2A CSTB
8 developmental and epileptic encephalopathy 1 32.8 TBC1D24 SLC25A22 SCN1A CDKL5 ARX
9 progressive myoclonus epilepsy 32.6 TBC1D24 SCN1B SCN1A MT-ND5 GBA1 GABRG2
10 epilepsy, idiopathic generalized 32.6 SCN1B SCN1A GABRG2 CHRNA4 CDKL5
11 myoclonus epilepsy 32.5 EPM2A CSTB ATN1
12 progressive myoclonus epilepsy 4 32.3 GBA1 EPM2A CSTB
13 developmental and epileptic encephalopathy 52 32.1 SCN1B SCN1A
14 childhood absence epilepsy 31.9 TBC1D24 SCN1B SCN1A GABRG2 CHRNA4 CDKL5
15 encephalopathy 31.9 SLC25A22 SCN1A CSTB CDKL5
16 juvenile absence epilepsy 31.5 SCN1A GABRG2 CHRNA4
17 photosensitive epilepsy 31.5 SCN1A GABRG2 CDKL5
18 epilepsy 31.3 TBC1D24 SLC25A22 SCN1B SCN1A KCND2 GABRG2
19 developmental and epileptic encephalopathy 7 31.3 SCN1A KCND2 CHRNA4
20 west syndrome 31.3 TUBA1A TBC1D24 SLC25A22 SIK1 SCN1B SCN1A
21 early infantile epileptic encephalopathy 31.3 TUBA1A TBC1D24 SLC25A22 SIK1 SCN1B SCN1A
22 ohtahara syndrome 31.2 SLC25A22 SCN1A CDKL5
23 mitochondrial myopathy 31.2 SDHB NDUFS4 MT-ND5 EPRS1 COX5A
24 mitochondrial disease 31.2 NDUFS4 MT-ND5 COX5A
25 epilepsy with generalized tonic-clonic seizures 31.2 SCN1B SCN1A GABRG2 CSTB CDKL5
26 lactic acidosis 31.1 SDHB NDUFS4 MT-ND5 EPRS1 COX5A
27 mitochondrial encephalomyopathy 31.1 NDUFS4 MT-ND5 EPRS1 COX5A
28 kearns-sayre syndrome 31.1 SDHB NDUFS4 MT-ND5 COX5A
29 reflex epilepsy 31.0 SCN1A GABRG2 CHRNA4
30 microcephaly 30.9 TUBA1A TBC1D24 SCN1A EPRS1 CSTB CDKL5
31 febrile seizures 30.9 SCN1B SCN1A GABRG2
32 generalized epilepsy with febrile seizures plus, type 2 30.9 SCN1B SCN1A GABRG2
33 dystonia 30.9 TBC1D24 SDHB EPRS1 CSTB ARX
34 benign epilepsy with centrotemporal spikes 30.8 TBC1D24 SCN1B SCN1A GABRG2 EPM2A CSTB
35 developmental and epileptic encephalopathy 30.8 TBC1D24 SLC25A22 SIK1 SCN1B SCN1A GABRG2
36 parkinsonism 30.8 TBC1D24 NDUFS4 MT-ND5 GBA1
37 developmental and epileptic encephalopathy 14 30.6 TBC1D24 SLC25A22 SCN1A CHRNA4 CDKL5
38 benign familial neonatal epilepsy 30.6 SLC25A22 SCN1B SCN1A GABRG2 CHRNA4 CDKL5
39 generalized epilepsy with febrile seizures plus 30.6 SCN1B SCN1A GABRG2 CHRNA4 CDKL5
40 focal epilepsy 30.6 SCN1A GABRG2 CHRNA4 CDKL5
41 benign neonatal seizures 30.6 TBC1D24 SLC25A22 SCN1B SCN1A CHRNA4 CDKL5
42 dravet syndrome 30.6 TBC1D24 SLC25A22 SCN1B SCN1A GABRG2 CHRNA4
43 lennox-gastaut syndrome 30.6 TBC1D24 SLC25A22 SCN1B SCN1A GABRG2 EPRS1
44 3-methylglutaconic aciduria, type iii 30.6 SCN1A COX5A CDKL5 ATN1
45 landau-kleffner syndrome 30.5 SCN1A NDUFS4 GABRG2 CDKL5
46 autosomal dominant nocturnal frontal lobe epilepsy 30.5 SCN1B SCN1A GABRG2 CSTB CHRNA4 CDKL5
47 pervasive developmental disorder 30.5 SCN1A KCND2 EPRS1 CDKL5
48 corpus callosum, agenesis of 30.5 TUBA1A ARX
49 developmental and epileptic encephalopathy 13 30.4 SCN1B SCN1A
50 spinal muscular atrophy with progressive myoclonic epilepsy 11.9

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:

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

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:

25 (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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.1 ARX ATN1 CDKL5 CHRNA4 CSTB EPM2A
2 normal MP:0002873 10.02 ARX ATN1 EPRS1 GABRG2 GBA1 NDUFS4
3 growth/size/body region MP:0005378 9.97 ARX ATN1 CSTB EPM2A EPRS1 GABRG2
4 no phenotypic analysis MP:0003012 9.87 ATN1 CDKL5 CHRNA4 CSTB SCN1B SDHB
5 behavior/neurological MP:0005386 9.86 ARX ATN1 CDKL5 CHRNA4 CSTB EPM2A
6 mortality/aging MP:0010768 9.47 ARX ATN1 CHRNA4 EPM2A EPRS1 GABRG2

Drugs & Therapeutics for Early Myoclonic Encephalopathy

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 4
2
Ethanol Approved Phase 3 64-17-5 702
3 Strawberry Approved Phase 3
4
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
5
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
6
Fenfluramine Approved, Illicit, Investigational, Withdrawn Phase 3 458-24-2 3337
7
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
8 Serotonin Uptake Inhibitors Phase 3
9 Hormones Phase 3
10 Calcium, Dietary Phase 3
11 calcium channel blockers Phase 3
12
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
13
Calcium Nutraceutical Phase 3 7440-70-2 271
14
Ropinirole Approved, Investigational Phase 2 91374-21-9 5095
15
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
16
Verapamil Approved Phase 2 152-11-4, 52-53-9 2520
17 Dopamine agonists Phase 2
18 Dopamine Agents Phase 2
19 Antiparkinson Agents Phase 2
20 Anti-Arrhythmia Agents Phase 2
21 Vasodilator Agents Phase 2
22
Levetiracetam Approved 102767-28-2 441341 5284583
23
Stiripentol Approved 49763-96-4 5311454

Interventional clinical trials:

(show top 50) (show all 59)
# Name Status NCT ID Phase Drugs
1 A Long-term Safety Study to Assess the Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution Recruiting NCT05044819 Phase 4 Cannabidiol
2 A Prospective Multi-Center Single-Arm Clinical Trial on Cognitive Effect of Cannabidiol (CBD-OS®) on Dravet Syndrome and Lennox-Gastaut Syndrome Unknown status NCT04611438 Phase 3 Cannabidiol
3 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 Unknown status NCT03299842 Phase 3 ZX008 (Fenfluramine Hydrochloride)
4 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 Completed NCT02682927 Phase 3 ZX008 (Fenfluramine Hydrochloride);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 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
7 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 (Cohort 1), 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 (Cohort 2) Completed NCT02926898 Phase 3 ZX008 (Fenfluramine Hydrochloride);Matching Placebo
8 An Open Label Extension Study to Investigate the Safety of Cannabidiol (GWP42003-P; CBD) in Children and Adults With Inadequately Controlled Dravet or Lennox-Gastaut Syndromes. Completed NCT02224573 Phase 3 GWP42003-P
9 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
10 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy, Safety, and Tolerability of Soticlestat as Adjunctive Therapy in Pediatric and Young Adult Subjects With Dravet Syndrome (DS) Recruiting NCT04940624 Phase 3 Soticlestat;Placebo
11 A Phase 3, Prospective, Open-Label, Multisite, Extension of Phase 3 Studies To Assess the Long-Term Safety and Tolerability of Soticlestat as Adjunctive Therapy in Subjects With Dravet Syndrome or Lennox-Gastaut Syndrome (ENDYMION 2) Recruiting NCT05163314 Phase 3 Soticlestat
12 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 Active, not recruiting NCT02823145 Phase 3 ZX008 (Fenfluramine Hydrochloride)
13 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 Active, not recruiting NCT03936777 Phase 3 ZX008 (Fenfluramine Hydrochloride)
14 Fenfluramine for the Treatment of Refractory Epilepsy in Adult Dravet Patients Not yet recruiting NCT05560282 Phase 3 Fenfluramine
15 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
16 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
17 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
18 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
19 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
20 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Aged 15-50: A Randomized Controlled Trial Unknown status NCT01450423 Phase 2
21 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 Completed NCT02758626 Phase 2 ataluren;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 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
24 Verapamil as Adjunctive Seizure Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
25 A Phase 2, Multicenter, Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy Who Completed Study LP352-201 and Are Candidates for Continuous Treatment for Up to 52 Weeks Recruiting NCT05626634 Phase 2 LP352
26 A 20-Week Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial of EPX-100 (Clemizole Hydrochloride) as Adjunctive Therapy in Children and Adult Participants With Dravet Syndrome (ARGUS Trial) Recruiting NCT04462770 Phase 2 EPX-100 (Clemizole HCl);Placebo
27 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
28 Randomized, Double-blind, Placebo-controlled, Parallel-group, Dose-escalation Study to Investigate the Safety, Tolerability, PK, PD, and Exploratory Efficacy of LP352 in Subjects With Developmental and Epileptic Encephalopathies Recruiting NCT05364021 Phase 1, Phase 2 LP352;Placebo
29 A Phase 2, Prospective, Interventional, Open-Label, Multi-Site, Extension Study to Assess the Long-Term Safety and Tolerability of Soticlestat (TAK-935) as Adjunctive Therapy in Subjects With Developmental Epileptic Encephalopathies Including Dravet Syndrome, Lennox Gastaut Syndrome, CDKL5 Deficiency Disorder, and Chromosome 15 Duplication Syndrome (ENDYMION 1) Active, not recruiting NCT03635073 Phase 2 Soticlestat
30 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
31 ENDEAVOR: A Clinical Study to Evaluate the Safety and Efficacy of ETX101, an AAV9-Delivered Gene Therapy in Infants and Children With SCN1A-Positive Dravet Syndrome Not yet recruiting NCT05419492 Phase 1, Phase 2 ETX101
32 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children Terminated NCT02815540 Phase 1, Phase 2 Cannabidiol
33 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
34 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 Completed NCT03467113 Phase 1 ZX008 0.2 to 0.8 mg/kg/day;Cannabidiol
35 The Becoming of Children With Doose Syndrome Unknown status NCT04048213
36 ZX008 Expanded Access Protocol - Dravet Syndrome Treatment Plan Approved for marketing NCT03780127 Fenfluramine Hydrochloride
37 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Approved for marketing NCT01983722 Stiripentol
38 Treatment of Gait Disorders in Children With Dravet Syndrome Completed NCT03857451
39 Effects of Levetiracetam on Cortical Excitability in Humans Completed NCT00006191
40 Cardiac Arrhythmias in Dravet Syndrome: an Observational, International, Multicentre Study Completed NCT02415686
41 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Completed NCT02229032
42 Biology of Juvenile Myoclonic Epilepsy Recruiting NCT03400371
43 Transcranial Magnetic Stimulation to Measure Cortical Excitability in Dravet Syndrome Recruiting NCT04614506
44 Genetics of Epilepsy and Related Disorders Recruiting NCT01858285
45 A Single-Site Tissue Repository Providing Annotated Biospecimens for Approved Investigator-directed Biomedical Research Initiatives Recruiting NCT05635266
46 Retrospective Non-interventional Study of Stiripentol Use in Dravet Patients in the USA Recruiting NCT05544058
47 Neurodevelopmental Impact of Epilepsy on Autonomic Function in Dravet Syndrome Recruiting NCT05472389
48 Neuronal Excitability of Hyperpolarization-activated Cyclic Nucleotide-gated (HCN1) Channel Mutations in Dravet Syndrome Recruiting NCT02896608
49 ENVISION: Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies Active, not recruiting NCT04537832
50 Extended Access Program and Retrospective Chart Review for Lorcaserin in Dravet Syndrome and Other Refractory Epilepsies Available NCT04457687 Lorcaserin

Search NIH Clinical Center for Early Myoclonic Encephalopathy

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Clonazepam

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 28

Anatomical Context for Early Myoclonic Encephalopathy

Organs/tissues related to Early Myoclonic Encephalopathy:

MalaCards : Brain, Liver, Temporal Lobe, Subthalamic Nucleus, Thalamus, Skeletal Muscle, Occipital Lobe

Publications for Early Myoclonic Encephalopathy

Articles related to Early Myoclonic Encephalopathy:

(show top 50) (show all 2931)
# Title Authors PMID Year
1
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. 62 5
15592994 2005
2
Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant. 5
31833200 2020
3
SLC25A22 is a novel gene for migrating partial seizures in infancy. 5
24596948 2013
4
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. 5
19780765 2009
5
Mutations in GABAA receptor subunits associated with genetic epilepsies. 53 62
20308251 2010
6
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. 53 62
20351042 2010
7
Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. 53 62
19563458 2010
8
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. 53 62
19734009 2009
9
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 53 62
19763161 2009
10
Dravet syndrome. 53 62
19737414 2009
11
Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations. 53 62
19666879 2009
12
Digenic mutations in severe myoclonic epilepsy of infancy. 53 62
19359143 2009
13
Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy. 53 62
19303743 2009
14
Molecular basis of severe myoclonic epilepsy in infancy. 53 62
19203854 2009
15
Clinical spectrum of SCN1A mutations. 53 62
19469841 2009
16
[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]. 53 62
19350499 2009
17
A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. 53 62
18755274 2008
18
[Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy]. 53 62
19099883 2008
19
Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. 53 62
18479393 2008
20
[ARX--one gene--many phenotypes]. 53 62
18975239 2008
21
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. 53 62
18554359 2008
22
[Epilepsy in Israel--2008]. 53 62
18357670 2008
23
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 53 62
17561957 2007
24
Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination. 53 62
17433057 2007
25
Role of genetics in the diagnosis and treatment of epilepsy. 53 62
17181426 2006
26
Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report. 53 62
17129991 2006
27
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. 53 62
17054697 2006
28
Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. 53 62
17065438 2006
29
SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. 53 62
17054696 2006
30
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 53 62
17030758 2006
31
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. 53 62
17054685 2006
32
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 53 62
17054684 2006
33
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. 53 62
17000989 2006
34
Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. 53 62
16806826 2006
35
Na channel gene mutations in epilepsy--the functional consequences. 53 62
16806834 2006
36
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. 53 62
16713920 2006
37
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. 53 62
16541393 2006
38
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. 53 62
16430863 2006
39
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. 53 62
16458823 2006
40
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. 53 62
16210358 2005
41
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. 53 62
16122630 2005
42
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. 53 62
15944908 2005
43
Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. 53 62
15508916 2005
44
Seizures of idiopathic generalized epilepsies. 53 62
16302874 2005
45
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. 53 62
15263074 2004
46
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. 53 62
15087100 2004
47
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. 53 62
15028761 2004
48
Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong. 53 62
14967857 2004
49
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. 53 62
14672992 2003
50
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. 53 62
14631200 2003

Variations for Early Myoclonic Encephalopathy

ClinVar genetic disease variations for Early Myoclonic Encephalopathy:

5 (show top 50) (show all 1221)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A22 NM_001191061.2(SLC25A22):c.813_814del (p.Ala272fs) MICROSAT Pathogenic
618891 rs1565035177 GRCh37: 11:792146-792147
GRCh38: 11:792146-792147
2 SLC25A22 NM_001191061.2(SLC25A22):c.818G>A (p.Arg273Lys) SNV Pathogenic
626258 rs1195505218 GRCh37: 11:792142-792142
GRCh38: 11:792142-792142
3 SLC25A22 NM_001191061.2(SLC25A22):c.706G>T (p.Gly236Trp) SNV Pathogenic
1776 rs121918335 GRCh37: 11:792340-792340
GRCh38: 11:792340-792340
4 SLC25A22 NM_001191061.2(SLC25A22):c.328G>C (p.Gly110Arg) SNV Pathogenic
120308 rs587777243 GRCh37: 11:792954-792954
GRCh38: 11:792954-792954
5 KCND2 NM_012281.3(KCND2):c.913C>T (p.Arg305Cys) SNV Pathogenic
1457866 GRCh37: 7:119915599-119915599
GRCh38: 7:120275545-120275545
6 KCND2 NM_012281.3(KCND2):c.1208C>T (p.Pro403Leu) SNV Pathogenic
1009567 rs750457269 GRCh37: 7:120373049-120373049
GRCh38: 7:120732995-120732995
7 SLC25A22 NM_001191061.2(SLC25A22):c.418C>T (p.Gln140Ter) SNV Pathogenic
212198 rs797045969 GRCh37: 11:792722-792722
GRCh38: 11:792722-792722
8 KCND2 NM_012281.3(KCND2):c.1210G>A (p.Val404Met) SNV Pathogenic
144007 rs587777631 GRCh37: 7:120373051-120373051
GRCh38: 7:120732997-120732997
9 TUBA1A NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) SNV Pathogenic
160159 rs587784489 GRCh37: 12:49579628-49579628
GRCh38: 12:49185845-49185845
10 SLC25A22 NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp) SNV Likely Pathogenic
569303 rs1388811021 GRCh37: 11:792206-792206
GRCh38: 11:792206-792206
11 SLC25A22 NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu) SNV Likely Pathogenic
1775 rs121918334 GRCh37: 11:792429-792429
GRCh38: 11:792429-792429
12 SLC25A22 NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter) SNV Likely Pathogenic
436749 rs1554965669 GRCh37: 11:792888-792888
GRCh38: 11:792888-792888
13 KCND2 NM_012281.3(KCND2):c.1215T>G (p.Ile405Met) SNV Likely Pathogenic
1473173 GRCh37: 7:120373056-120373056
GRCh38: 7:120733002-120733002
14 KCND2 NM_012281.3(KCND2):c.931C>T (p.Arg311Cys) SNV Uncertain Significance
1510173 GRCh37: 7:119915617-119915617
GRCh38: 7:120275563-120275563
15 KCND2 NM_012281.3(KCND2):c.1449C>A (p.His483Gln) SNV Uncertain Significance
1449009 GRCh37: 7:120382638-120382638
GRCh38: 7:120742584-120742584
16 JMJD1C NM_032776.3(JMJD1C):c.6119G>A (p.Arg2040Lys) SNV Uncertain Significance
1507743 GRCh37: 10:64950826-64950826
GRCh38: 10:63191066-63191066
17 JMJD1C NM_032776.3(JMJD1C):c.1390_1391delinsAT (p.Ser464Met) INDEL Uncertain Significance
1500932 GRCh37: 10:64974536-64974537
GRCh38: 10:63214776-63214777
18 JMJD1C NM_032776.3(JMJD1C):c.525A>T (p.Glu175Asp) SNV Uncertain Significance
1478143 GRCh37: 10:64979666-64979666
GRCh38: 10:63219906-63219906
19 JMJD1C NM_032776.3(JMJD1C):c.2441G>A (p.Arg814Gln) SNV Uncertain Significance
1518929 GRCh37: 10:64973486-64973486
GRCh38: 10:63213726-63213726
20 JMJD1C NM_032776.3(JMJD1C):c.2749A>G (p.Ile917Val) SNV Uncertain Significance
1509700 GRCh37: 10:64968941-64968941
GRCh38: 10:63209181-63209181
21 KCND2 NM_012281.3(KCND2):c.508A>G (p.Arg170Gly) SNV Uncertain Significance
1510638 GRCh37: 7:119915194-119915194
GRCh38: 7:120275140-120275140
22 KCND2 NM_012281.3(KCND2):c.1033G>A (p.Ala345Thr) SNV Uncertain Significance
1348500 GRCh37: 7:119915719-119915719
GRCh38: 7:120275665-120275665
23 JMJD1C NM_032776.3(JMJD1C):c.3253C>T (p.Pro1085Ser) SNV Uncertain Significance
1351415 GRCh37: 10:64968176-64968176
GRCh38: 10:63208416-63208416
24 KCND2 NM_012281.3(KCND2):c.17C>A (p.Ala6Glu) SNV Uncertain Significance
1520541 GRCh37: 7:119914703-119914703
GRCh38: 7:120274649-120274649
25 JMJD1C NM_032776.3(JMJD1C):c.3640C>T (p.His1214Tyr) SNV Uncertain Significance
1521635 GRCh37: 10:64967789-64967789
GRCh38: 10:63208029-63208029
26 KCND2 NM_012281.3(KCND2):c.159G>C (p.Gln53His) SNV Uncertain Significance
1505231 GRCh37: 7:119914845-119914845
GRCh38: 7:120274791-120274791
27 JMJD1C NM_032776.3(JMJD1C):c.4379G>C (p.Ser1460Thr) SNV Uncertain Significance
1345082 GRCh37: 10:64967050-64967050
GRCh38: 10:63207290-63207290
28 KCND2 NM_012281.3(KCND2):c.1144G>A (p.Ala382Thr) SNV Uncertain Significance
1346462 GRCh37: 7:120372985-120372985
GRCh38: 7:120732931-120732931
29 JMJD1C NM_032776.3(JMJD1C):c.678+4A>G SNV Uncertain Significance
840358 rs1848101561 GRCh37: 10:64976963-64976963
GRCh38: 10:63217203-63217203
30 JMJD1C-AS1, JMJD1C NM_032776.3(JMJD1C):c.168+5G>A SNV Uncertain Significance
970281 rs773770549 GRCh37: 10:65225250-65225250
GRCh38: 10:63465490-63465490
31 JMJD1C NM_032776.3(JMJD1C):c.7084+3_7084+4dup DUP Uncertain Significance
1010927 rs1843729440 GRCh37: 10:64943201-64943202
GRCh38: 10:63183441-63183442
32 JMJD1C NM_032776.3(JMJD1C):c.2694+3A>G SNV Uncertain Significance
1011550 rs780003916 GRCh37: 10:64973230-64973230
GRCh38: 10:63213470-63213470
33 JMJD1C NM_032776.3(JMJD1C):c.5188_5189del (p.Lys1730fs) DEL Uncertain Significance
1023813 rs1845901209 GRCh37: 10:64960323-64960324
GRCh38: 10:63200563-63200564
34 JMJD1C NM_032776.3(JMJD1C):c.6570+3G>T SNV Uncertain Significance
1025639 rs76935733 GRCh37: 10:64948925-64948925
GRCh38: 10:63189165-63189165
35 JMJD1C NM_032776.3(JMJD1C):c.6834C>G (p.Tyr2278Ter) SNV Uncertain Significance
1061532 GRCh37: 10:64944495-64944495
GRCh38: 10:63184735-63184735
36 JMJD1C NM_032776.3(JMJD1C):c.822+3A>G SNV Uncertain Significance
1063108 GRCh37: 10:64975310-64975310
GRCh38: 10:63215550-63215550
37 JMJD1C NM_032776.3(JMJD1C):c.4825A>G (p.Lys1609Glu) SNV Uncertain Significance
460254 rs189704160 GRCh37: 10:64966604-64966604
GRCh38: 10:63206844-63206844
38 JMJD1C NM_032776.3(JMJD1C):c.4358C>T (p.Thr1453Ile) SNV Uncertain Significance
460246 rs778255192 GRCh37: 10:64967071-64967071
GRCh38: 10:63207311-63207311
39 JMJD1C NM_032776.3(JMJD1C):c.3308A>G (p.Asn1103Ser) SNV Uncertain Significance
460238 rs751756118 GRCh37: 10:64968121-64968121
GRCh38: 10:63208361-63208361
40 JMJD1C NM_032776.3(JMJD1C):c.2246T>G (p.Leu749Ter) SNV Uncertain Significance
460227 rs1554840033 GRCh37: 10:64973681-64973681
GRCh38: 10:63213921-63213921
41 JMJD1C NM_032776.3(JMJD1C):c.3593G>A (p.Arg1198His) SNV Uncertain Significance
529704 rs766251480 GRCh37: 10:64967836-64967836
GRCh38: 10:63208076-63208076
42 JMJD1C NM_032776.3(JMJD1C):c.6136G>C (p.Glu2046Gln) SNV Uncertain Significance
529707 rs376454657 GRCh37: 10:64950809-64950809
GRCh38: 10:63191049-63191049
43 KCND2 NM_012281.3(KCND2):c.1616G>A (p.Arg539His) SNV Uncertain Significance
529715 rs376772376 GRCh37: 7:120385982-120385982
GRCh38: 7:120745928-120745928
44 JMJD1C NM_032776.3(JMJD1C):c.2637_2638delinsGC (p.Ser880Pro) INDEL Uncertain Significance
573145 rs1564618479 GRCh37: 10:64973289-64973290
GRCh38: 10:63213529-63213530
45 JMJD1C NM_032776.3(JMJD1C):c.3248C>T (p.Ser1083Leu) SNV Uncertain Significance
576244 rs367831647 GRCh37: 10:64968181-64968181
GRCh38: 10:63208421-63208421
46 JMJD1C NM_032776.3(JMJD1C):c.532del (p.Val178fs) DEL Uncertain Significance
581156 rs1208957255 GRCh37: 10:64979659-64979659
GRCh38: 10:63219899-63219899
47 JMJD1C NM_032776.3(JMJD1C):c.1634A>G (p.Lys545Arg) SNV Uncertain Significance
581733 rs777955645 GRCh37: 10:64974293-64974293
GRCh38: 10:63214533-63214533
48 KCND2 NM_012281.3(KCND2):c.1467G>A (p.Thr489=) SNV Uncertain Significance
583107 rs762124346 GRCh37: 7:120382656-120382656
GRCh38: 7:120742602-120742602
49 JMJD1C NM_032776.3(JMJD1C):c.5863-3T>C SNV Uncertain Significance
641465 rs372628812 GRCh37: 10:64952914-64952914
GRCh38: 10:63193154-63193154
50 JMJD1C NM_032776.3(JMJD1C):c.4355C>G (p.Thr1452Ser) SNV Uncertain Significance
643408 rs749463991 GRCh37: 10:64967074-64967074
GRCh38: 10:63207314-63207314

Copy number variations for Early Myoclonic Encephalopathy from CNVD:

6
# 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

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 9.98 SCN1B SCN1A

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 anchoring junction GO:0070161 9.17 TBC1D24 KCND2 GABRG2 CHRNA4 ATN1
2 sodium channel complex GO:0034706 8.96 SCN1B SCN1A

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

# Name GO ID Score Top Affiliating Genes
1 aerobic respiration GO:0009060 9.91 SDHB NDUFS4 MT-ND5
2 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.88 SDHB NDUFS4 MT-ND5
3 nervous system process GO:0050877 9.72 GBA1 GABRG2 CHRNA4
4 neuronal action potential propagation GO:0019227 9.67 SCN1B SCN1A
5 regulation of postsynaptic membrane potential GO:0060078 9.65 CHRNA4 GABRG2 KCND2
6 regulation of membrane potential GO:0042391 9.63 SCN1A GBA1 GABRG2 CHRNA4
7 monoatomic ion transport GO:0006811 9.56 SLC25A22 SCN1B SCN1A KCND2 GABRG2 CHRNA4
8 monoatomic ion transmembrane transport GO:0034220 9.17 SCN1B SCN1A KCND2 GABRG2 CHRNA4

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

# Name GO ID Score Top Affiliating Genes
1 monoatomic ion channel activity GO:0005216 8.92 SCN1A KCND2 GABRG2 CHRNA4

Sources for Early Myoclonic Encephalopathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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