MCID: ERL001
MIFTS: 61

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 58 36 29 6 15 71
Myoclonic Epilepsy 12 74 6 17
Epilepsies, Myoclonic 43 71
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

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:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:308
KEGG 36 H01819
MeSH 43 D004831
ICD10 via Orphanet 33 G40.4
UMLS via Orphanet 72 C0270855
Orphanet 58 ORPHA1935
UMLS 71 C0014550 C0270855

Summaries for Early Myoclonic Encephalopathy

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 associated with ragged-red fibers and myoclonic epilepsy of infancy, 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 GABAergic synapse. The drugs Ethanol and Strawberry have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and heart, and related phenotypes are myoclonus and generalized myoclonic seizures

Wikipedia : 74 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 429)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy associated with ragged-red fibers 34.8 MT-ND5 EPM2A CSTB COX5A
2 myoclonic epilepsy of infancy 34.5 SCN1A GABRG2
3 epilepsy, myoclonic juvenile 34.2 SCN1B SCN1A GABRG2 GABRB2 EPM2A CSTB
4 unverricht-lundborg syndrome 34.0 SCN1B GABRG2 EPM2A CSTB CHRNA4
5 epilepsy, idiopathic generalized 32.7 SCN1B SCN1A GABRG2 GABRB2 CSTB CHRNA4
6 generalized epilepsy with febrile seizures plus 32.7 SCN1B SCN1A GABRG2 GABRB2 CHRNA4 CDKL5
7 juvenile absence epilepsy 32.4 SCN1A GABRG2
8 generalized epilepsy with febrile seizures plus, type 1 32.4 SCN1B SCN1A
9 encephalopathy 31.9 SLC25A22 SCN1A CDKL5 ARX
10 scn1a seizure disorders 31.7 SCN1B SCN1A
11 myoclonus epilepsy 31.5 EPM2A CSTB
12 seizure disorder 31.5 SCN1A CDKL5
13 glycine encephalopathy 31.3 SLC25A22 AMT ABAT
14 childhood absence epilepsy 31.1 SCN1B SCN1A GABRG2 GABRB2 EPM2A CHRNA4
15 epilepsy with generalized tonic-clonic seizures 31.1 SCN1B SCN1A GABRG2 CSTB
16 visual epilepsy 31.0 SCN1B SCN1A GABRG2 EPM2A CHRNA4 CDKL5
17 reflex epilepsy 31.0 SCN1A GABRG2
18 hyperekplexia 30.8 KCND2 GABRG2 CHRNA4
19 landau-kleffner syndrome 30.8 SCN1A GABRG2 CDKL5
20 west syndrome 30.8 TH SLC25A22 SIK1 SCN1B SCN1A GABRG2
21 febrile seizures 30.8 SCN1B SCN1A GABRG2
22 early infantile epileptic encephalopathy 30.7 TH SLC25A22 SIK1 SCN1B SCN1A GABRG2
23 malignant migrating partial seizures of infancy 30.6 SLC25A22 SCN1A
24 epilepsy, nocturnal frontal lobe, 1 30.5 SCN1B SCN1A GABRG2 CHRNA4
25 pervasive developmental disorder 30.5 TH SCN1A KCND2 CDKL5
26 focal epilepsy 30.4 SCN1B SCN1A GABRG2 CHRNA4 CDKL5
27 alcohol dependence 30.4 TH GABRG2 GABRB2 CHRNA4
28 autosomal dominant nocturnal frontal lobe epilepsy 30.4 SCN1B SCN1A GABRG2 CSTB CHRNA4
29 benign epilepsy with centrotemporal spikes 30.4 SCN1B SCN1A GABRG2 EPM2A CSTB CHRNA4
30 electroclinical syndrome 30.4 SLC25A22 SCN1B SCN1A GABRG2 EPM2A CSTB
31 lennox-gastaut syndrome 30.3 SLC25A22 SCN1B SCN1A GABRG2 GABRB2 CDKL5
32 benign familial neonatal epilepsy 30.3 SCN1A CDKL5
33 autism 30.2 TH SCN1A KCND2 GABRG2 ERBB4 CHRNA4
34 epileptic encephalopathy, early infantile, 6 30.2 SLC25A22 SCN1B SCN1A GABRG2 GABRB2 CHRNA4
35 epilepsy 29.6 SLC25A22 SCN1B SCN1A MT-ND5 KCND2 GABRG2
36 myoclonic epilepsy of unverricht and lundborg 12.9
37 spinal muscular atrophy with progressive myoclonic epilepsy 12.9
38 myoclonic epilepsy of lafora 12.8
39 myoclonic epilepsy, familial infantile 12.8
40 myoclonic epilepsy, juvenile 4 12.7
41 myoclonic epilepsy, juvenile 3 12.7
42 benign adult familial myoclonic epilepsy 12.7
43 myoclonic epilepsy myopathy sensory ataxia 12.5
44 myoclonic epilepsy, hartung type 12.4
45 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders 12.4
46 deafness, congenital, and familial myoclonic epilepsy 12.3
47 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 12.2
48 epilepsy, idiopathic generalized 10 12.2
49 ataxia with myoclonic epilepsy and presenile dementia 12.2
50 spastic paraplegia with myoclonic epilepsy 12.2

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

26 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.9 EPM2A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.9 CSTB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.9 CSTB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.9 EPM2A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.9 CSTB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.9 EPM2A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.9 SCN1B
8 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.9 SCN1B
9 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.9 EPM2A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.9 SLC25A22
11 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.9 CSTB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.9 SCN1B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.9 SCN1A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.9 SCN1A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.9 SCN1A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.9 SCN1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.9 SCN1B SLC25A22
18 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.9 SCN1A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.9 CSTB EPM2A SCN1A SCN1B SLC25A22
20 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.9 CSTB
21 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.9 SCN1A SLC25A22
22 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.9 SCN1B
23 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.9 SCN1B
24 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.9 CSTB
25 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.9 EPM2A
26 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.9 SLC25A22
27 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.9 SCN1B
28 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.9 EPM2A SLC25A22
29 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.9 SCN1A
30 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.9 SLC25A22
31 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.9 SCN1A

MGI Mouse Phenotypes related to Early Myoclonic Encephalopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ARX ATN1 CDKL5 CHRNA4 CSTB EPM2A
2 nervous system MP:0003631 9.83 AMT ARX ATN1 CDKL5 CHRNA4 CSTB
3 normal MP:0002873 9.23 ARX ATN1 ERBB4 GABRG2 GBA SCN1A

Drugs & Therapeutics for Early Myoclonic Encephalopathy

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

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

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 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)
10 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)
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 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 Recruiting NCT04069689 Phase 1 EPX-100 (Clemizole Hydrochloride);Placebos
27 Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
28 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Approved for marketing NCT01983722 Stiripentol
29 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Completed NCT02229032
30 Cardiac Arrhythmias in Dravet Syndrome: an Observational, International, Multicentre Study Completed NCT02415686
31 Effects of Levetiracetam on Cortical Excitability in Humans Completed NCT00006191
32 Clinical, Molecular and Biochemical Characterization of Familial Encephalopathy With Neuroserpin Inclusion Bodies Completed NCT00006176
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 ZX008 Expanded Access Protocol - Dravet Syndrome Treatment Plan Available NCT03780127 Fenfluramine Hydrochloride
40 The Becoming of Children With Doose Syndrome Not yet recruiting NCT04048213
41 Compassionate Use of Stiripentol in Intractable Epilepsy Due to Dravet Syndrome No longer available NCT01533506 stiripentol
42 Compassionate Use of Stiripentol in Dravet Syndrome No longer available NCT01835314 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 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 29 SLC25A22

Anatomical Context for Early Myoclonic Encephalopathy

MalaCards organs/tissues related to Early Myoclonic Encephalopathy:

40
Brain, Temporal Lobe, Heart, Eye, Skin, Cortex, Thalamus

Publications for Early Myoclonic Encephalopathy

Articles related to Early Myoclonic Encephalopathy:

(show top 50) (show all 2511)
# Title Authors PMID Year
1
Mutations in GABAA receptor subunits associated with genetic epilepsies. 54 61
20308251 2010
2
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. 54 61
20351042 2010
3
Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. 54 61
19563458 2010
4
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. 54 61
19734009 2009
5
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
6
Dravet syndrome. 54 61
19737414 2009
7
Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations. 54 61
19666879 2009
8
Digenic mutations in severe myoclonic epilepsy of infancy. 54 61
19359143 2009
9
Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy. 54 61
19303743 2009
10
Clinical spectrum of SCN1A mutations. 54 61
19469841 2009
11
Molecular basis of severe myoclonic epilepsy in infancy. 54 61
19203854 2009
12
[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]. 54 61
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. 54 61
18755274 2008
14
[Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy]. 54 61
19099883 2008
15
Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. 54 61
18479393 2008
16
[ARX--one gene--many phenotypes]. 54 61
18975239 2008
17
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. 54 61
18554359 2008
18
[Epilepsy in Israel--2008]. 54 61
18357670 2008
19
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 54 61
17561957 2007
20
Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination. 54 61
17433057 2007
21
Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report. 54 61
17129991 2006
22
Role of genetics in the diagnosis and treatment of epilepsy. 54 61
17181426 2006
23
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 54 61
17030758 2006
24
Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. 54 61
17065438 2006
25
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 54 61
17054684 2006
26
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. 54 61
17054685 2006
27
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. 54 61
17054697 2006
28
SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. 54 61
17054696 2006
29
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. 54 61
17000989 2006
30
Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. 54 61
16806826 2006
31
Na channel gene mutations in epilepsy--the functional consequences. 54 61
16806834 2006
32
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. 54 61
16713920 2006
33
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. 54 61
16541393 2006
34
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. 54 61
16430863 2006
35
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. 54 61
16458823 2006
36
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. 54 61
16210358 2005
37
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
38
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. 54 61
15944908 2005
39
Seizures of idiopathic generalized epilepsies. 54 61
16302874 2005
40
Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. 54 61
15508916 2005
41
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. 54 61
15263074 2004
42
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. 54 61
15087100 2004
43
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. 54 61
15028761 2004
44
Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong. 54 61
14967857 2004
45
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. 54 61
14631200 2003
46
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. 54 61
14672992 2003
47
Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations? 54 61
13129592 2003
48
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. 54 61
14504318 2003
49
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. 54 61
12821740 2003
50
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. 54 61
12754708 2003

Variations for Early Myoclonic Encephalopathy

ClinVar genetic disease variations for Early Myoclonic Encephalopathy:

6 (show top 50) (show all 175) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A22 NM_001191061.2(SLC25A22):c.418C>T (p.Gln140Ter)SNV Pathogenic 212198 rs797045969 11:792722-792722 11:792722-792722
2 SLC25A22 NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu)SNV Pathogenic 1775 rs121918334 11:792429-792429 11:792429-792429
3 SLC25A22 NM_001191061.2(SLC25A22):c.706G>T (p.Gly236Trp)SNV Pathogenic 1776 rs121918335 11:792340-792340 11:792340-792340
4 SLC25A22 NM_001191061.2(SLC25A22):c.328G>C (p.Gly110Arg)SNV Pathogenic 120308 rs587777243 11:792954-792954 11:792954-792954
5 SLC25A22 NM_001191061.2(SLC25A22):c.811_812TG[1] (p.Ala272fs)short repeat Pathogenic 618891 rs1565035177 11:792146-792147 11:792146-792147
6 SLC25A22 NM_001191061.2(SLC25A22):c.818G>A (p.Arg273Lys)SNV Pathogenic 626258 rs1195505218 11:792142-792142 11:792142-792142
7 SLC25A22 NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter)SNV Pathogenic/Likely pathogenic 436749 rs1554965669 11:792888-792888 11:792888-792888
8 SLC25A22 NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)SNV Conflicting interpretations of pathogenicity 139131 rs116134953 11:794509-794509 11:794509-794509
9 SLC25A22 NM_001191061.2(SLC25A22):c.413-8G>CSNV Conflicting interpretations of pathogenicity 139136 rs376015598 11:792735-792735 11:792735-792735
10 SLC25A22 NM_001191061.2(SLC25A22):c.897C>T (p.Phe299=)SNV Conflicting interpretations of pathogenicity 159918 rs7124179 11:791990-791990 11:791990-791990
11 SLC25A22 NM_001191061.2(SLC25A22):c.474C>T (p.Pro158=)SNV Uncertain significance 159916 rs556959164 11:792666-792666 11:792666-792666
12 SLC25A22 NM_001191061.2(SLC25A22):c.179A>G (p.Glu60Gly)SNV Uncertain significance 159912 rs587784387 11:794481-794481 11:794481-794481
13 CHRNA2 NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp)SNV Uncertain significance 204982 rs376970816 8:27327370-27327370 8:27469853-27469853
14 SLC25A22 NM_001191061.2(SLC25A22):c.124G>A (p.Gly42Ser)SNV Uncertain significance 207159 rs535927522 11:794798-794798 11:794798-794798
15 JMJD1C NM_032776.3(JMJD1C):c.488C>T (p.Pro163Leu)SNV Uncertain significance 267299 rs766449028 10:64979703-64979703 10:63219943-63219943
16 JMJD1C NM_032776.3(JMJD1C):c.5396T>C (p.Ile1799Thr)SNV Uncertain significance 460259 rs367650429 10:64958368-64958368 10:63198608-63198608
17 JMJD1C NM_032776.3(JMJD1C):c.3308A>G (p.Asn1103Ser)SNV Uncertain significance 460238 rs751756118 10:64968121-64968121 10:63208361-63208361
18 JMJD1C NM_032776.3(JMJD1C):c.2377C>T (p.Pro793Ser)SNV Uncertain significance 460230 rs761363257 10:64973550-64973550 10:63213790-63213790
19 JMJD1C NM_032776.3(JMJD1C):c.663C>A (p.Ile221=)SNV Uncertain significance 460270 rs144745368 10:64976982-64976982 10:63217222-63217222
20 JMJD1C NM_032776.3(JMJD1C):c.5075-5deldeletion Uncertain significance 460257 rs779803861 10:64960442-64960442 10:63200682-63200682
21 JMJD1C NM_032776.3(JMJD1C):c.4825A>G (p.Lys1609Glu)SNV Uncertain significance 460254 rs189704160 10:64966604-64966604 10:63206844-63206844
22 JMJD1C NM_032776.3(JMJD1C):c.3295A>G (p.Asn1099Asp)SNV Uncertain significance 460237 rs747004650 10:64968134-64968134 10:63208374-63208374
23 JMJD1C NM_032776.3(JMJD1C):c.2322A>C (p.Leu774Phe)SNV Uncertain significance 460229 rs1414243223 10:64973605-64973605 10:63213845-63213845
24 JMJD1C NM_032776.3(JMJD1C):c.2246T>G (p.Leu749Ter)SNV Uncertain significance 460227 rs1554840033 10:64973681-64973681 10:63213921-63213921
25 JMJD1C NM_032776.3(JMJD1C):c.1387C>T (p.His463Tyr)SNV Uncertain significance 460215 rs61757562 10:64974540-64974540 10:63214780-63214780
26 JMJD1C NM_032776.3(JMJD1C):c.6989T>C (p.Ile2330Thr)SNV Uncertain significance 460275 rs1554828044 10:64943302-64943302 10:63183542-63183542
27 JMJD1C NM_032776.3(JMJD1C):c.6527G>A (p.Ser2176Asn)SNV Uncertain significance 460268 rs1554829957 10:64948971-64948971 10:63189211-63189211
28 JMJD1C NM_032776.3(JMJD1C):c.4871C>T (p.Ser1624Phe)SNV Uncertain significance 460256 rs760860474 10:64966558-64966558 10:63206798-63206798
29 JMJD1C NM_032776.3(JMJD1C):c.4358C>T (p.Thr1453Ile)SNV Uncertain significance 460246 rs778255192 10:64967071-64967071 10:63207311-63207311
30 JMJD1C NM_032776.3(JMJD1C):c.800A>G (p.Asn267Ser)SNV Uncertain significance 460282 rs369156176 10:64975335-64975335 10:63215575-63215575
31 JMJD1C NM_032776.3(JMJD1C):c.647T>A (p.Phe216Tyr)SNV Uncertain significance 460266 rs1554841947 10:64976998-64976998 10:63217238-63217238
32 JMJD1C NM_032776.3(JMJD1C):c.5122C>G (p.Leu1708Val)SNV Uncertain significance 460258 rs372791018 10:64960390-64960390 10:63200630-63200630
33 JMJD1C NM_032776.3(JMJD1C):c.1573A>G (p.Asn525Asp)SNV Uncertain significance 460221 rs188760754 10:64974354-64974354 10:63214594-63214594
34 JMJD1C NM_032776.3(JMJD1C):c.5533A>C (p.Met1845Leu)SNV Uncertain significance 529698 rs905988373 10:64957282-64957282 10:63197522-63197522
35 JMJD1C NM_032776.3(JMJD1C):c.3265C>T (p.Pro1089Ser)SNV Uncertain significance 529712 rs200160728 10:64968164-64968164 10:63208404-63208404
36 JMJD1C NM_032776.3(JMJD1C):c.3093T>G (p.Asp1031Glu)SNV Uncertain significance 529702 rs1397945403 10:64968336-64968336 10:63208576-63208576
37 JMJD1C NM_032776.3(JMJD1C):c.1611G>A (p.Met537Ile)SNV Uncertain significance 529711 rs897135842 10:64974316-64974316 10:63214556-63214556
38 SCN1A NM_006920.6(SCN1A):c.1889G>C (p.Arg630Pro)SNV Uncertain significance 560660 rs145670933 2:166900333-166900333 2:166043823-166043823
39 KCND2 NC_000007.13:g.(?_119914667)_(119915821_?)dupduplication Uncertain significance 583682 7:119914667-119915821 7:120274613-120275767
40 KCND2 NM_012281.3(KCND2):c.31T>C (p.Phe11Leu)SNV Uncertain significance 569893 rs142392153 7:119914717-119914717 7:120274663-120274663
41 KCND2 NM_012281.3(KCND2):c.1628C>T (p.Ala543Val)SNV Uncertain significance 568878 rs1168875214 7:120385994-120385994 7:120745940-120745940
42 KCND2 NM_012281.3(KCND2):c.1716-7deldeletion Uncertain significance 573121 rs1562926880 7:120387728-120387728 7:120747674-120747674
43 JMJD1C NM_032776.3(JMJD1C):c.6308G>A (p.Arg2103Gln)SNV Uncertain significance 568415 rs927398945 10:64949190-64949190 10:63189430-63189430
44 JMJD1C NM_032776.3(JMJD1C):c.5945C>G (p.Ser1982Cys)SNV Uncertain significance 567767 rs371819371 10:64952829-64952829 10:63193069-63193069
45 JMJD1C NM_032776.3(JMJD1C):c.4169C>T (p.Thr1390Met)SNV Uncertain significance 567823 rs747375729 10:64967260-64967260 10:63207500-63207500
46 JMJD1C NM_032776.3(JMJD1C):c.4094A>G (p.His1365Arg)SNV Uncertain significance 573782 rs1564606985 10:64967335-64967335 10:63207575-63207575
47 JMJD1C NM_032776.3(JMJD1C):c.3740C>T (p.Ser1247Leu)SNV Uncertain significance 579950 rs1564608409 10:64967689-64967689 10:63207929-63207929
48 JMJD1C NM_032776.3(JMJD1C):c.3671A>G (p.Tyr1224Cys)SNV Uncertain significance 573234 rs1419282048 10:64967758-64967758 10:63207998-63207998
49 JMJD1C NM_032776.3(JMJD1C):c.3271A>C (p.Ser1091Arg)SNV Uncertain significance 577010 rs1369753710 10:64968158-64968158 10:63208398-63208398
50 JMJD1C NM_032776.3(JMJD1C):c.1399C>G (p.Gln467Glu)SNV Uncertain significance 566313 rs763576839 10:64974528-64974528 10:63214768-63214768

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

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 12.16 TH SCN1B SCN1A KCND2
2
Show member pathways
12.07 MT-ND5 GABRG2 GABRB2 ABAT
3
Show member pathways
10.41 GABRG2 GABRB2
4 10.4 GABRG2 GABRB2 CHRNA4
5 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 mitochondrion GO:0005739 10.02 TH SLC25A22 MT-ND5 ERBB4 COX5A AMT
2 dendrite GO:0030425 9.77 TH KCND2 GABRG2 EPM2A CHRNA4
3 perikaryon GO:0043204 9.56 TH SCN1B KCND2 EPM2A
4 postsynaptic membrane GO:0045211 9.55 KCND2 GABRG2 GABRB2 ERBB4 CHRNA4
5 voltage-gated sodium channel complex GO:0001518 9.46 SCN1B SCN1A
6 node of Ranvier GO:0033268 9.43 SCN1B SCN1A
7 neuron projection GO:0043005 9.43 TH MT-ND5 GABRG2 GABRB2 CHRNA4 ABAT
8 GABA-A receptor complex GO:1902711 9.4 GABRG2 GABRB2
9 sodium channel complex GO:0034706 9.32 SCN1B SCN1A
10 GABA-ergic synapse GO:0098982 8.92 KCND2 GABRG2 GABRB2 ERBB4

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.85 SCN1A GABRG2 GABRB2 CHRNA4
2 chemical synaptic transmission GO:0007268 9.8 KCND2 GABRG2 GABRB2 CHRNA4
3 locomotory behavior GO:0007626 9.7 TH CHRNA4 ABAT
4 response to hypoxia GO:0001666 9.67 TH MT-ND5 CHRNA4 ABAT
5 membrane depolarization GO:0051899 9.59 SCN1B CHRNA4
6 regulation of sodium ion transport GO:0002028 9.58 SIK1 SCN1B
7 action potential GO:0001508 9.58 KCND2 CHRNA4
8 nervous system process GO:0050877 9.58 GABRG2 GABRB2 CHRNA4
9 cardiac muscle cell action potential involved in contraction GO:0086002 9.57 SCN1B SCN1A
10 L-glutamate transmembrane transport GO:0015813 9.56 SLC25A22 EPM2A
11 exploration behavior GO:0035640 9.54 CHRNA4 ABAT
12 synaptic transmission, GABAergic GO:0051932 9.51 GABRG2 GABRB2
13 response to nicotine GO:0035094 9.5 TH CHRNA4 ABAT
14 ion transport GO:0006811 9.5 SLC25A22 SCN1B SCN1A KCND2 GABRG2 GABRB2
15 inhibitory synapse assembly GO:1904862 9.48 GABRG2 GABRB2
16 neuronal action potential propagation GO:0019227 9.46 SCN1B SCN1A
17 regulation of membrane potential GO:0042391 9.46 SCN1A GABRG2 GABRB2 CHRNA4
18 cellular response to histamine GO:0071420 9.43 GABRG2 GABRB2
19 response to pyrethroid GO:0046684 9.26 TH SCN1B
20 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 transaminase activity GO:0008483 9.43 AMT ABAT
3 voltage-gated sodium channel activity GO:0005248 9.4 SCN1B SCN1A
4 GABA-A receptor activity GO:0004890 9.32 GABRG2 GABRB2
5 GABA-gated chloride ion channel activity GO:0022851 9.26 GABRG2 GABRB2
6 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.16 GABRG2 GABRB2
7 extracellular ligand-gated ion channel activity GO:0005230 9.13 GABRG2 GABRB2 CHRNA4
8 ion channel activity GO:0005216 9.02 SCN1A KCND2 GABRG2 GABRB2 CHRNA4

Sources for Early Myoclonic Encephalopathy

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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50 NDF-RT
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61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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