MCID: KCN021
MIFTS: 7

Kcnb1 Encephalopathy

Aliases & Classifications for Kcnb1 Encephalopathy

MalaCards integrated aliases for Kcnb1 Encephalopathy:

Name: Kcnb1 Encephalopathy 43
Epileptic Encephalopathy, Early Infantile, 26 43
Early Infantile Epileptic Encephalopathy 26 43
Kcnb1-Related Epilepsy 43
Eiee26 43

Summaries for Kcnb1 Encephalopathy

MedlinePlus Genetics : 43 KCNB1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy), recurrent seizures (epilepsy), and developmental delay.Most people who have KCNB1 encephalopathy have more than one type of seizure. The seizure types that can occur in people with this condition include uncontrolled muscle twitches (myoclonic seizures), uncontrolled muscle stiffness (tonic seizures), loss of consciousness with muscle rigidity and convulsions (tonic-clonic seizures), sudden episodes of weak muscle tone (atonic seizures), sudden falls (drop attacks), or partial or complete loss of consciousness (absence seizures).Some individuals with KCNB1 encephalopathy do not develop seizures, but they do have an abnormal pattern of electrical activity in the brain called continuous spike and waves during slow-wave sleep (CSWS). This pattern occurs during sleep, specifically during deep (slow-wave) sleep.Children with KCNB1 encephalopathy have delayed development of speech and motor skills, such as sitting, crawling, and walking. Weak muscle tone (hypotonia) in some affected individuals can contribute to this delay. Many children with the condition eventually walk independently, but some individuals require assistance. Some affected individuals can communicate verbally using simple sentences, while others never develop the skill.About half of individuals with KCNB1 encephalopathy also have behavioral conditions, including attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). ADHD is characterized by overactivity, impulsive behavior, and difficulty paying attention.  In KCNB1 encephalopathy, problems with vision, digestion, and sleep can rarely occur.

MalaCards based summary : Kcnb1 Encephalopathy, also known as epileptic encephalopathy, early infantile, 26, is related to developmental and epileptic encephalopathy 26 and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Kcnb1 Encephalopathy is KCNB1 (Potassium Voltage-Gated Channel Subfamily B Member 1).

Related Diseases for Kcnb1 Encephalopathy

Diseases related to Kcnb1 Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 26 12.0
2 alacrima, achalasia, and mental retardation syndrome 10.0
3 developmental and epileptic encephalopathy 10.0
4 epilepsy 10.0
5 encephalopathy 10.0

Graphical network of the top 20 diseases related to Kcnb1 Encephalopathy:



Diseases related to Kcnb1 Encephalopathy

Symptoms & Phenotypes for Kcnb1 Encephalopathy

Drugs & Therapeutics for Kcnb1 Encephalopathy

Search Clinical Trials , NIH Clinical Center for Kcnb1 Encephalopathy

Genetic Tests for Kcnb1 Encephalopathy

Anatomical Context for Kcnb1 Encephalopathy

Publications for Kcnb1 Encephalopathy

Articles related to Kcnb1 Encephalopathy:

# Title Authors PMID Year
1
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. 61
32954514 2020

Variations for Kcnb1 Encephalopathy

Expression for Kcnb1 Encephalopathy

Search GEO for disease gene expression data for Kcnb1 Encephalopathy.

Pathways for Kcnb1 Encephalopathy

GO Terms for Kcnb1 Encephalopathy

Sources for Kcnb1 Encephalopathy

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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