KCNMA1-AS1 gene related symptoms and diseases
All the information presented here about the KCNMA1-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KCNMA1-AS1 gene
|Symptoms // Phenotype||% Cases|
|Intellectual disability||Very Common - Between 80% and 100% cases|
|Seizures||Very Common - Between 80% and 100% cases|
|Global developmental delay||Very Common - Between 80% and 100% cases|
|Generalized hypotonia||Very Common - Between 80% and 100% cases|
|Nystagmus||Very Common - Between 80% and 100% cases|
Other less frequent symptoms and clinical featuresPatients with KCNMA1-AS1 gene alterations may also develop some of the following symptoms and phenotypes:
Commonly - More than 50% cases
- Generalized tonic-clonic seizures
- Generalized-onset seizure
- Absence seizures
And 3 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KCNMA1-AS1 gene
Here you will find a list of rare diseases related to the KCNMA1-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GENERALIZED EPILEPSY-PAROXYSMAL DYSKINESIA SYNDROME
GENERALIZED EPILEPSY-PAROXYSMAL DYSKINESIA SYNDROME Is also known as generalized epilepsy and paroxysmal dyskinesia, gepd
Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.
Most common symptoms of GENERALIZED EPILEPSY-PAROXYSMAL DYSKINESIA SYNDROME
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
More info about GENERALIZED EPILEPSY-PAROXYSMAL DYSKINESIA SYNDROME
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