EPM2A gene related symptoms and diseases

All the information presented here about the EPM2A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to EPM2A gene

Symptoms // Phenotype	% Cases
Seizures	Very Common - Between 80% and 100% cases
Hallucinations	Very Common - Between 80% and 100% cases
Focal-onset seizure	Very Common - Between 80% and 100% cases
Generalized-onset seizure	Very Common - Between 80% and 100% cases
Apraxia	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with EPM2A gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Psychosis
Cutaneous photosensitivity
Progressive neurologic deterioration
Absence seizures
Neurodegeneration
Hyperkinesis
Visual hallucinations
Vegetative state

And 24 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to EPM2A gene

Here you will find a list of rare diseases related to the EPM2A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

LAFORA DISEASE

Alternate names

LAFORA DISEASE Is also known as epm2a, lafora disease, progressive myoclonus epilepsy type 2, lafora body disease, pme type 2, epilepsy, progressive myoclonic, 2a, melf, epm2, lbd, progressive myoclonic epilepsy type 2

Description

Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.

Most common symptoms of LAFORA DISEASE

Seizures
Ataxia
Cognitive impairment
Dysarthria
Gait disturbance

More info about LAFORA DISEASE

SOURCES: OMIM ORPHANET MESH

Search interest in EPM2A

Potential gene panels for EPM2A gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1

EPM2A gene related symptoms and diseases

Top 5 symptoms and clinical features associated to EPM2A gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Accelerate your rare disease diagnosis with us

Rare diseases associated to EPM2A gene

LAFORA DISEASE

Alternate names

Description

Most common symptoms of LAFORA DISEASE

Search interest in EPM2A

Potential gene panels for EPM2A gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

NGS Epilepsy/Seizure Panel Panel

Childhood Epilepsy Panel

Epilepsy/Seizure Panel

Ataxia Exome Panel Panel

Epilepsy Panel - Comprehensive Panel

Comprehensive Epilepsy Panel Panel

Childhood-Onset Epilepsy Panel Panel

Progressive Myoclonic Epilepsy Panel Panel

Glycogen Storage Disease- Generalised Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

EpilepsyNext Panel

EpiRapid reflex EpilepsyNext Panel

EPM2A. Complete sequencing Panel

Rapid Epilepsy Seq Analysis Panel

Rapid Epilepsy Seq + Del/Dup Panel Panel

CHOP Epilepsy Panel Panel

Rapid Epilepsy Del/Dup Panel Panel

Progressive myoclonic epilepsy type 2 (deletion/duplication analysis on EPM2A gene) Panel

Progressive myoclonic epilepsy type 2 (sequence analysis of EPM2A gene) Panel

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

Lafora Disease via EPM2A Gene Sequencing with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Neurogenetic Disorders - panels Panel

Epileptic Encephalopathy Panel

Progressive Myoclonic Epilepsy Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Brain Malformations / Neuronal Migration Disorders Panel

Epilepsy Panel

EPM2A Panel

Progressive myoclonic epilepsy panel Panel

AllNeuro panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

EPM2A Panel

Neuronal Ceroid Lipofuscinosis and Progressive Myoclonic Epilepsy Panel Panel

Ataxia and differential diagnoses Panel Panel

Single gene testing EPM2A Panel

Epilepsy Panel

Epilepsy of Lafora Panel

Epilepsy of Lafora Panel

Invitae Epilepsy Panel Panel

Progressive myoclonic epilepsy (EPM2A) Panel

DRAVET, SYNDROME & MIOCLONIC EPILEPSY Panel

EPILEPSY HEREDITARY PANEL Panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

Neurology: Sequencing Panel Panel

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

Epilepsy NGS Panel Panel

EPM2A Panel

Idiopathic Generalized Epilepsy NGS Panel Panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

Comprehensive Epilepsy NGS Panel Panel

NCL and Progressive Myoclonic Epilepsy Panel Panel

Glycogen Storage Disorder Panel Panel

Comprehensive Metabolism Panel Panel

Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel

Comprehensive Epilepsy Panel Panel

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 2 (LAFORA) Panel

PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel

Progressive Myoclonic Epilepsy Type 2A (Lafora Type), Sequencing EPM2A Gene Panel

Progressive Myoclonic Epilepsy Type 2A , Deletions-Duplications (MLPA) EPM2A Gene Panel

Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes Panel

Severe Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes Panel

Progressive Myoclonus Epilepsy, Lafora Type: gene sequencing panel Panel