1. Mendelian
  2. Genes
  3. KCNMA1-AS1

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.

Table of contents:

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 features

Patients with KCNMA1-AS1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Strabismus
  • Dystonia
  • Generalized tonic-clonic seizures
  • Dyskinesia
  • Chorea
  • Esotropia
  • 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

Alternate names

GENERALIZED EPILEPSY-PAROXYSMAL DYSKINESIA SYNDROME Is also known as generalized epilepsy and paroxysmal dyskinesia, gepd

Description

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
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus


More info about GENERALIZED EPILEPSY-PAROXYSMAL DYSKINESIA SYNDROME

SOURCES: ORPHANET OMIM MESH



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PTGER3