EEOC
MCID: CHD007
MIFTS: 20

Chd2 Myoclonic Encephalopathy (EEOC)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Chd2 Myoclonic Encephalopathy

MalaCards integrated aliases for Chd2 Myoclonic Encephalopathy:

Name: Chd2 Myoclonic Encephalopathy 54 26
Epileptic Encephalopathy, Childhood-Onset 54 74
Chd2-Related Neurodevelopmental Disorders 54 26
Chd2 Encephalopathy 54 26
Encephalopathy, Epileptic, Childhood-Onset 41
Childhood-Onset Epileptic Encephalopathy 54
Eeoc 54

Classifications:



External Ids:

UMLS 74 C3809278

Summaries for Chd2 Myoclonic Encephalopathy

Genetics Home Reference : 26 CHD2 myoclonic encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. Epilepsy begins in childhood, typically between ages 6 months and 4 years. Each individual may experience a variety of seizure types. The most common are myoclonic seizures, which involve involuntary muscle twitches. Other seizure types include sudden episodes of weak muscle tone (atonic seizures); partial or complete loss of consciousness (absence seizures); seizures brought on by high body temperature (febrile seizure); or tonic-clonic seizures, which involve loss of consciousness, muscle rigidity, and convulsions. Some people with CHD2 myoclonic encephalopathy have photosensitive epilepsy, in which seizures are triggered by flashing lights. Some people with CHD2 myoclonic encephalopathy experience a type of seizure called atonic-myoclonic-absence seizure, which begins with a drop of the head, followed by loss of consciousness, then rigid movements of the arms. Epilepsy can worsen, causing prolonged episodes of seizure activity that last several minutes, known as status epilepticus. The seizures associated with CHD2 myoclonic encephalopathy are called refractory because they usually do not respond to therapy with anti-epileptic medications.

MalaCards based summary : Chd2 Myoclonic Encephalopathy, also known as epileptic encephalopathy, childhood-onset, is related to epileptic encephalopathy, childhood-onset and chd2-related neurodevelopmental disorders, and has symptoms including seizures, absence seizures and myoclonic seizures. An important gene associated with Chd2 Myoclonic Encephalopathy is CHD2 (Chromodomain Helicase DNA Binding Protein 2). The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain.

Related Diseases for Chd2 Myoclonic Encephalopathy

Diseases related to Chd2 Myoclonic Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, childhood-onset 12.8
2 chd2-related neurodevelopmental disorders 12.5
3 encephalopathy 10.2
4 autism 10.0
5 microvascular complications of diabetes 3 10.0
6 microvascular complications of diabetes 4 10.0
7 microvascular complications of diabetes 6 10.0
8 microvascular complications of diabetes 7 10.0
9 brain injury 10.0
10 traumatic brain injury 10.0
11 multiple chemical sensitivity 10.0
12 overuse syndrome 10.0
13 repetitive motion disorders 10.0
14 cumulative trauma disorders 10.0

Graphical network of the top 20 diseases related to Chd2 Myoclonic Encephalopathy:



Diseases related to Chd2 Myoclonic Encephalopathy

Symptoms & Phenotypes for Chd2 Myoclonic Encephalopathy

UMLS symptoms related to Chd2 Myoclonic Encephalopathy:


seizures, absence seizures, myoclonic seizures

Drugs & Therapeutics for Chd2 Myoclonic Encephalopathy

Drugs for Chd2 Myoclonic Encephalopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
2
Memantine Approved, Investigational Phase 4 19982-08-2 4054
3 Dopamine Agents Phase 4
4 N-Methylaspartate Phase 4
5 Excitatory Amino Acid Antagonists Phase 4
6 Antiparkinson Agents Phase 4
7 Neurotransmitter Agents Phase 4
8 Aspartic Acid Phase 4
9 Excitatory Amino Acids Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Memantine for Epileptic Encephalopathy Recruiting NCT03779672 Phase 4 Memantine Hydrochloride 10 mg

Search NIH Clinical Center for Chd2 Myoclonic Encephalopathy

Genetic Tests for Chd2 Myoclonic Encephalopathy

Anatomical Context for Chd2 Myoclonic Encephalopathy

MalaCards organs/tissues related to Chd2 Myoclonic Encephalopathy:

42
Brain

Publications for Chd2 Myoclonic Encephalopathy

Articles related to Chd2 Myoclonic Encephalopathy:

# Title Authors Year
1
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. ( 25672921 )
2015
2
CHD2-Related Neurodevelopmental Disorders ( 26677509 )
1993

Variations for Chd2 Myoclonic Encephalopathy

Expression for Chd2 Myoclonic Encephalopathy

Search GEO for disease gene expression data for Chd2 Myoclonic Encephalopathy.

Pathways for Chd2 Myoclonic Encephalopathy

GO Terms for Chd2 Myoclonic Encephalopathy

Sources for Chd2 Myoclonic Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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