ATP1A2 gene related symptoms and diseases

All the information presented here about the ATP1A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ATP1A2 gene

Symptoms // Phenotype % Cases
Headache Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases
Nystagmus Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Hemiplegia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ATP1A2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hemiparesis
  • Migraine
  • Intellectual disability
  • Vomiting
  • Blindness
  • Nausea
  • Dysphasia
  • Migraine with aura

And 85 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ATP1A2 gene

Here you will find a list of rare diseases related to the ATP1A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ALTERNATING HEMIPLEGIA OF CHILDHOOD


Alternate names

ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc

Description

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

Most common symptoms of ALTERNATING HEMIPLEGIA OF CHILDHOOD

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD

SOURCES: ORPHANET OMIM

FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE


Description

Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).

Most common symptoms of FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Blindness


More info about FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE

SOURCES: OMIM ORPHANET

MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2


Alternate names

MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Most common symptoms of MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

SOURCES: OMIM


Potential gene panels for ATP1A2 gene

Hemiplegic Migraine Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Hemiplegic Migraine Sequencing Evaluation that also includes the following genes: SCN1A CACNA1A ATP1A2

More info about this panel

ATP1A2 Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the ATP1A2 gene.

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine that also includes the following genes: SCN1A SLC2A1 CACNA1A PRRT2 NOTCH3 ATP1A2 POLG

More info about this panel

NGS Epilepsy/Seizure Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

Dystonia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel

Epilepsy/Seizure Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1

More info about this panel

Migraine and Strokes Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Migraine and Strokes Panel that also includes the following genes: SCN1A SLC2A1 CACNA1A COL4A1 NOTCH3 ATP1A2 POLG HTRA1

More info about this panel

Movement Disorders Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX

More info about this panel

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Epilepsy Panel - Comprehensive Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5

More info about this panel

Comprehensive Epilepsy Panel Panel

United States.

By GeneDx Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 SYN1

More info about this panel

CustomNext: Neuro Panel

United States.

By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

Neurodevelopment-Expanded Panel

United States.

By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

EpilepsyNext Panel

United States.

By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A

More info about this panel

EpiRapid reflex EpilepsyNext Panel

United States.

By Ambry Genetics EpiRapid reflex EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A

More info about this panel

Familial Hemiplegic Migraine Panel Panel

United States.

By Ambry Genetics Familial Hemiplegic Migraine Panel that also includes the following genes: SCN1A CACNA1A PRRT2 ATP1A2

More info about this panel

Familial Hemiplegic Migraine type 2 Panel

Italy.

By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR

This panel specifically test the ATP1A2 gene.

More info about this panel

ATP1A2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ATP1A2 gene.

More info about this panel

ATP1A2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ATP1A2 gene.

More info about this panel

ATP1A2, CACNA1A, SCN1A. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica ATP1A2, CACNA1A, SCN1A. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SCN1A CACNA1A ATP1A2

More info about this panel

Familial Hemiplegic Migraine type 2 (sequence analysis of ATP1A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATP1A2 gene.

More info about this panel

Familial hemiplegic migraine type 2 (FHM2, deletion/duplication analysis of ATP1A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATP1A2 gene.

More info about this panel

Familial hemiplegic migraine (NGS panel for 3 genes) Panel

Portugal.

By CGC Genetics Familial hemiplegic migraine (NGS panel for 3 genes) that also includes the following genes: SCN1A CACNA1A ATP1A2

More info about this panel

Familial Hemiplegic Migraine 2 (FHM2) via ATP1A2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ATP1A2 gene.

More info about this panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5

More info about this panel

Familial Hemiplegic Migraine Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Familial Hemiplegic Migraine Sequencing Panel with CNV Detection that also includes the following genes: SCN1A CACNA1A PRRT2 ATP1A2

More info about this panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

ATP1A2-Related Alternating Hemiplegia of Childhood Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ATP1A2 gene.

More info about this panel

Familial Hemiplegic Migraine 2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ATP1A2 gene.

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Familial Hemiplegic Migraine Panel

Germany.

By MGZ Medical Genetics Center Familial Hemiplegic Migraine that also includes the following genes: SCN1A SLC2A1 CACNA1A ATP1A2 ATP1A3

More info about this panel

Epilepsy Panel

Germany.

By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Epilepsy with paroxysmal disorders panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Epilepsy with paroxysmal disorders panel that also includes the following genes: SLC2A1 CACNA1A PRRT2 KCNMA1 ATP1A2

More info about this panel

Familial hemiplegic migraine type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ATP1A2 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Migraine Panel Panel

Germany.

By CeGaT GmbH Migraine Panel that also includes the following genes: SCN1A SLC1A3 SLC2A1 CACNA1A KCNK18 PRRT2 NOTCH3 ATP1A2 ATP1A3 POLG

More info about this panel

Single gene testing ATP1A2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ATP1A2 gene.

More info about this panel

ATP1A2-Related Alternating Hemiplegia of Childhood Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the ATP1A2 gene.

More info about this panel

Familial Hemiplegic Migraine 2 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the ATP1A2 gene.

More info about this panel

ATP1A2-Related Alternating Hemiplegia of Childhood Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the ATP1A2 gene.

More info about this panel

Familial hemiplegic Migraine Type 2, ATP1A2 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the ATP1A2 gene.

More info about this panel

Epilepsy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8

More info about this panel

Invitae Epilepsy Panel Panel

United States.

By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1

More info about this panel

Invitae Alternating Hemiplegia of Childhood Panel Panel

United States.

By Invitae Invitae Alternating Hemiplegia of Childhood Panel that also includes the following genes: ATP1A2 ATP1A3

More info about this panel

Hemiplegic migraine type 2, Familial: ATP1A2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ATP1A2 gene.

More info about this panel

MIGRAINE Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases MIGRAINE that also includes the following genes: SCN1A SLC2A1 CACNA1A NOTCH3 ATP1A2 POLG

More info about this panel

EPILEPSY HEREDITARY PANEL Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases EPILEPSY HEREDITARY PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H

More info about this panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

Neurology: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3

More info about this panel

Dystonia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Migraine NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Migraine NGS Panel that also includes the following genes: SCN1A SLC2A1 CDKL5 STXBP1 CACNA1A PCDH19 ARX PNPO FOLR1 FOXG1

More info about this panel

Hemiplegia/Stroke NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hemiplegia/Stroke NGS Panel that also includes the following genes: SCN1A SLC2A1 CACNA1A COL4A1 COL4A2 NOTCH3 ATP1A2 ATP1A3 OTC POLG

More info about this panel

ATP1A2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATP1A2 gene.

More info about this panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Migraine Panel Panel

Finland.

By Blueprint Genetics Migraine Panel that also includes the following genes: SCN1A SLC1A3 SLC2A1 CACNA1A KCNK18 PRRT2 NOTCH3 ATP1A2 ATP1A3 POLG

More info about this panel

Alternating hemiplegia of childhood type 1 Panel

Spain.

By Bioarray

This panel specifically test the ATP1A2 gene.

More info about this panel

Familial hemiplegic migraine type 2 Panel

Spain.

By Bioarray

This panel specifically test the ATP1A2 gene.

More info about this panel

Next Generation Sequencing for FHM, EA2, SCA6, CADASIL, Epilepsy Panel

Australia.

By Genomics Research Centre Diagnostics Clinic Queensland Unstitute of Technology Next Generation Sequencing for FHM, EA2, SCA6, CADASIL, Epilepsy that also includes the following genes: SCN1A CACNA1A NOTCH3 ATP1A2

More info about this panel

FAMILIAL HEMIPLEGIC MIGRAINE Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HEMIPLEGIC MIGRAINE that also includes the following genes: SCN1A CACNA1A ATP1A2

More info about this panel

HEMIPLEGIC MIGRAINE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HEMIPLEGIC MIGRAINE NGS PANEL that also includes the following genes: SCN1A CACNA1A PRRT2 ATP1A2

More info about this panel

Familial hemiplegic migraine type 2 Panel

Canada.

By LifeLabs Genetics

This panel specifically test the ATP1A2 gene.

More info about this panel

Familial Hemiplegic Migraine Type 2 , Sequencing ATP1A2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ATP1A2 gene.

More info about this panel

Familial Hemiplegic Migraine Type 2 , Deletions-Duplications (MLPA) ATP1A2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ATP1A2 gene.

More info about this panel

Familial Hemiplegic Migraine , Deletions-Duplications (MLPA) CACNA1A and ATP1A2 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Hemiplegic Migraine , Deletions-Duplications (MLPA) CACNA1A and ATP1A2 Genes that also includes the following genes: CACNA1A ATP1A2

More info about this panel

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

Spain.

By Reference Laboratory Genetics Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H

More info about this panel

Familial Hemiplegic Migraine , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Hemiplegic Migraine , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SCN1A SLC2A1 CACNA1A NOTCH3 ATP1A2 POLG

More info about this panel

Familial Hemiplegic Migraine: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Familial Hemiplegic Migraine: gene sequencing panel that also includes the following genes: SCN1A CACNA1A ATP1A2

More info about this panel


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