Hyperekplexia, Hereditary 1; Hkpx1

Description

Hyperekplexia is an early-onset neurologic disorder characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli. Affected individuals have brief episodes of intense, generalized hypertonia in response to stimulation. Neonates may have prolonged periods of rigidity and are at risk for sudden death from apnea or aspiration. Many affected infants have inguinal hernias. The symptoms tend to resolve after infancy, but adults may have increased startle-induced falls and/or experience nocturnal muscle jerks (summary by Ryan et al., 1992). Genetic Heterogeneity of HyperekplexiaSee also HKPX2 (OMIM ), caused by mutation in the GLRB gene (OMIM ) on chromosome 4q31, and HKPX3 (OMIM ), caused by mutation in the GLYT2 gene (SLC6A5 ) on chromosome 11p15.Hyperekplexia can also occur in early infantile epileptic encephalopathy-8 (EIEE8 ), caused by mutation in the ARHGEF9 gene (OMIM ).See also sporadic stiff-man syndrome (OMIM ) and the 'Jumping Frenchmen of Maine' (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperekplexia, Hereditary 1; Hkpx1

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Gait disturbance
  • Hypertonia
  • Inguinal hernia
  • Hernia
  • Myoclonus
And another 24 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Hyperekplexia, Hereditary 1; Hkpx1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Molybdenum cofactor deficiency C (sequence analysis of GPHN gene).

By CGC Genetics in Portugal.

GPHN
Specificity
100 %
Genes
20 %
Hyperekplexia (NGS panel for 7 genes).

By CGC Genetics in Portugal.

FKTN, ARHGEF9, ASNS, GLRB, GLRA1, SLC6A5, GPHN
Specificity
58 %
Genes
80 %
Molybdenum Cofactor Deficiency via GPHN Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GPHN
Specificity
100 %
Genes
20 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
40 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
20 %
Molybdenum cofactor deficiency, type C.

By Institute of Human Genetics Cologne University in Germany.

GPHN
Specificity
100 %
Genes
20 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
80 %
Epileptic Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, AMACR, POLG, PANK2, MECP2, GAMT, STXBP1, SLC25A22, GLDC, HEXA, HEXB, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, NPC1, NPC2 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
20 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1 , (...)

View the complete list with 166 more genes
Specificity
1 %
Genes
20 %
Hyperekplexia.

By MGZ Medical Genetics Center in Germany.

ARHGEF9, GLRB, GLRA1, SLC6A5, GPHN
Specificity
80 %
Genes
80 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
20 %
Molybdenum cofactor deficiency, type C (GPHN).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

GPHN
Specificity
100 %
Genes
20 %
Metabolic disease with epilepsy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

MTHFR, ADSL, CPT2, GAMT, CTSD, GCSH, GLDC, AMT, ALDH7A1, TPP1, CLN3, SLC2A1, CLN6, CLN8, PPT1, CLN5, FOLR1, PNPO, DNAJC5, MFSD8 , (...)

View the complete list with 4 more genes
Specificity
13 %
Genes
60 %
Hyperekplexia panel.

By Centogene AG - the Rare Disease Company in Germany.

ARHGEF9, GLRB, GLRA1, GPHN, SLC6A2
Specificity
60 %
Genes
60 %
Hyperekplexia.

By Centogene AG - the Rare Disease Company in Germany.

GPHN
Specificity
100 %
Genes
20 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
20 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
20 %
Epileptic Encephalopathy Panel.

By CeGaT GmbH in Germany.

MTHFR, UBE3A, ADSL, CPT2, MECP2, GAMT, STXBP1, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH7A1, MOCS2, MOCS1, ARX, CDKL5, FOXG1, MEF2C, PCDH19 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
20 %
Hyperekplexia Panel.

By CeGaT GmbH in Germany.

ARHGEF9, GLRB, GLRA1, SLC6A5, GPHN
Specificity
80 %
Genes
80 %
Metabolic Epilepsy Panel.

By CeGaT GmbH in Germany.

MTHFR, ARG1, BTD, ADSL, PRODH, GNE, FH, GAMT, ATIC, GCSH, GLDC, AMT, SUOX, ALDH5A1, ALDH7A1, PTS, QDPR, MOCS2, MOCS1, ALDH4A1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
20 %
Molybdenum Cofactor Deficiency Panel.

By CeGaT GmbH in Germany.

MOCS2, MOCS1, GPHN
Specificity
34 %
Genes
20 %
Single gene testing GPHN.

By CeGaT GmbH in Germany.

GPHN
Specificity
100 %
Genes
20 %
Epilepsy.

By Asper Biogene Asper Biogene LLC in Estonia.

UBE3A, MCCC1, ADSL, TUBB3, POLG, MECP2, GAMT, GATM, STXBP1, SLC25A22, ALG3, SLC9A6, ALDH7A1, MOCS2, MOCS1, WWOX, SLC6A8, ARX, CDKL5, FOXG1 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
20 %
Invitae Hereditary Hyperekplexia Panel.

By Invitae in United States.

ARHGEF9, CLPB, GLRB, GLRA1, SLC6A5, GPHN
Specificity
67 %
Genes
80 %
Invitae Neurotransmitter Disorders Panel.

By Invitae in United States.

ABAT, SPR, SLC25A22, GCSH, GLDC, AMT, GAD1, MAOA, ALDH5A1, ALDH7A1, PTS, QDPR, TH, PHGDH, GCH1, PNPO, ARHGEF9, DBH, DDC, SLC6A3 , (...)

View the complete list with 7 more genes
Specificity
15 %
Genes
80 %
Invitae Purine Metabolism Disorders Panel.

By Invitae in United States.

ADSL, HPRT1, XDH, MOCS1, ADA, PNP, AMPD1, GPHN, MOCOS
Specificity
12 %
Genes
20 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
2 %
Genes
80 %
GPHN.

By Fulgent Genetics Fulgent Genetics in United States.

GPHN
Specificity
100 %
Genes
20 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
80 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
20 %
Metabolic Epilepsy Panel.

By Blueprint Genetics in Finland.

MTHFR, ARG1, BTD, ADSL, PRODH, GNE, POLG, FH, DNM1L, ABAT, GAMT, GLDC, AMT, ETHE1, D2HGDH, SUOX, ALDH5A1, ALDH7A1, PTS, QDPR , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
20 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ADSL, CPT2, POLG, NDUFS4, MECP2, DNM1L, TTC19, NUBPL, ABAT, GAMT, STXBP1, SLC25A22, GLDC, AMT, ETHE1, D2HGDH, SLC9A6 , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
20 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
40 %
Nephrolithiasis Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, MOCS1, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
20 %
Purine and Pyrimidine Metabolism Disorders Panel.

By Blueprint Genetics in Finland.

ADSL, HPRT1, DHODH, ATIC, XDH, NT5C3A, MOCS1, ADA, APRT, PNP, DPYD, UMOD, PRPS1, AMPD1, TPMT, REN, UMPS, GPHN, UPB1, DPYS , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
20 %
Hyperekplexia NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

ARHGEF9, GLRB, GLRA1, SLC6A5, GPHN
Specificity
80 %
Genes
80 %
GPHN Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

GPHN
Specificity
100 %
Genes
20 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
20 %
MOLYBDENUM COFACTOR DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

MOCS2, MOCS1, GPHN
Specificity
34 %
Genes
20 %
Molybdenum Cofactor Deficiency C , Sequencing GPHN Gene.

By Reference Laboratory Genetics in Spain.

GPHN
Specificity
100 %
Genes
20 %
Startle Disease , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

ARHGEF9, GLRB, GLRA1, SLC6A5, GPHN
Specificity
80 %
Genes
80 %
Hereditary Hyperekplexia: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ARHGEF9, GLRB, GLRA1, GPHN
Specificity
75 %
Genes
60 %
Hereditary Hyperekplexia: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ARHGEF9, GLRB, GLRA1, GPHN
Specificity
75 %
Genes
60 %
GLRB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GLRB
Specificity
100 %
Genes
20 %
Hyperekplexia 2 (sequence analysis of GLRB gene).

By CGC Genetics in Portugal.

GLRB
Specificity
100 %
Genes
20 %
Newborn: Neonatal Apneas.

By MGZ Medical Genetics Center in Germany.

CHAT, PHOX2B, CHRNE, RAPSN, SCN4A, COLQ, CHRNA1, CHRND, CHRNB1, LAS1L, GLRB, GLRA1, SLC6A5
Specificity
24 %
Genes
60 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)

View the complete list with 159 more genes
Specificity
2 %
Genes
60 %
Hyperekplexia.

By Centogene AG - the Rare Disease Company in Germany.

GLRB
Specificity
100 %
Genes
20 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
60 %
Single gene testing GLRB.

By CeGaT GmbH in Germany.

GLRB
Specificity
100 %
Genes
20 %
GLRB-Related Hyperekplexia.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

GLRB
Specificity
100 %
Genes
20 %
Hyperekplexia 2.

By Praxis fuer Humangenetik Wien in Austria.

GLRB
Specificity
100 %
Genes
20 %
Hyperekplexia 2.

By MedGene in Slovakia.

GLRB
Specificity
100 %
Genes
20 %
Startle syndrome: GLRA1, GLRB and SLC6A5 genes deletions-duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GLRB, GLRA1, SLC6A5
Specificity
100 %
Genes
60 %
GLRB.

By Fulgent Genetics Fulgent Genetics in United States.

GLRB
Specificity
100 %
Genes
20 %
Hereditary hyperekplexia type 2.

By Bioarray in Spain.

GLRB
Specificity
100 %
Genes
20 %
GLRB Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

GLRB
Specificity
100 %
Genes
20 %
HYPEREKPLEXIA, HEREDITARY.

By Laboratorio de Genetica Clinica SL in Spain.

ARHGEF9, GLRB, GLRA1, SLC6A5
Specificity
75 %
Genes
60 %
Startle Disease , Sequencing GLRB Gene.

By Reference Laboratory Genetics in Spain.

GLRB
Specificity
100 %
Genes
20 %
Startle Disease , Deletions-Duplications (MLPA) GLRA1,GLRB,SLC6A5 Genes.

By Reference Laboratory Genetics in Spain.

GLRB, GLRA1, SLC6A5
Specificity
100 %
Genes
60 %
SLC6A5. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SLC6A5
Specificity
100 %
Genes
20 %
Hyperekplexia 3 (sequence analysis of SLC6A5 gene).

By CGC Genetics in Portugal.

SLC6A5
Specificity
100 %
Genes
20 %
Glycine transporter 2 deficiency (SLC6A5).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

SLC6A5
Specificity
100 %
Genes
20 %
Hyperekplexia.

By Centogene AG - the Rare Disease Company in Germany.

SLC6A5
Specificity
100 %
Genes
20 %
Single gene testing SLC6A5.

By CeGaT GmbH in Germany.

SLC6A5
Specificity
100 %
Genes
20 %
SLC6A5-Related Hyperekplexia.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

SLC6A5
Specificity
100 %
Genes
20 %
Startle syndrome: SLC6A5 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLC6A5
Specificity
100 %
Genes
20 %
SLC6A5.

By Fulgent Genetics Fulgent Genetics in United States.

SLC6A5
Specificity
100 %
Genes
20 %
Central Hypoventilation and Apnea Panel.

By Blueprint Genetics in Finland.

RET, MECP2, CHAT, PHOX2B, CHRNE, RAPSN, SCN4A, COLQ, CHRNA1, CHRND, CHRNB1, ZEB2, EDN3, GLRA1, SLC6A5
Specificity
14 %
Genes
40 %
Comprehensive Pulmonology Panel.

By Blueprint Genetics in Finland.

FBLN5, RET, ELN, SMPD1, MECP2, HPS1, HPS4, CCDC39, CHAT, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, CHRNE, SERPINA1, SLC7A7 , (...)

View the complete list with 46 more genes
Specificity
4 %
Genes
40 %
Hereditary hyperekplexia type 3.

By Bioarray in Spain.

SLC6A5
Specificity
100 %
Genes
20 %
SLC6A5 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SLC6A5
Specificity
100 %
Genes
20 %
Startle Disease , Sequencing SLC6A5 Gene.

By Reference Laboratory Genetics in Spain.

SLC6A5
Specificity
100 %
Genes
20 %
GLRA1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GLRA1
Specificity
100 %
Genes
20 %
Hyperekplexia, hereditary 1 (sequence analysis of GLRA1 gene).

By CGC Genetics in Portugal.

GLRA1
Specificity
100 %
Genes
20 %
Hyperekplexia, hereditary 1 (deletion/duplication analysis of GLRA1 gene).

By CGC Genetics in Portugal.

GLRA1
Specificity
100 %
Genes
20 %
Hyperekplexia.

By Centogene AG - the Rare Disease Company in Germany.

GLRA1
Specificity
100 %
Genes
20 %
Single gene testing GLRA1.

By CeGaT GmbH in Germany.

GLRA1
Specificity
100 %
Genes
20 %
GLRA1-Related Hyperekplexia.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

GLRA1
Specificity
100 %
Genes
20 %
Hyperekplexia.

By Praxis fuer Humangenetik Wien in Austria.

GLRA1
Specificity
100 %
Genes
20 %
Hyperekplexia.

By MedGene in Slovakia.

GLRA1
Specificity
100 %
Genes
20 %
Invitae Epilepsy Panel.

By Invitae in United States.

UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, TPP1, CLN3, WWOX, PNKD, SLC6A8, ARX, CDKL5 , (...)

View the complete list with 105 more genes
Specificity
1 %
Genes
20 %
Startle syndrome: GLRA1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GLRA1
Specificity
100 %
Genes
20 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
20 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
20 %
GLRA1.

By Fulgent Genetics Fulgent Genetics in United States.

GLRA1
Specificity
100 %
Genes
20 %
Hereditary hyperekplexia type 1.

By Bioarray in Spain.

GLRA1
Specificity
100 %
Genes
20 %
GLRA1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

GLRA1
Specificity
100 %
Genes
20 %
Startle Disease , Sequencing GLRA1 Gene.

By Reference Laboratory Genetics in Spain.

GLRA1
Specificity
100 %
Genes
20 %
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes.

By Reference Laboratory Genetics in Spain.

GAA, STXBP1, SLC25A22, GBE1, ARX, CDKL5, DMPK, PCDH19, CHRNE, SCN1A, CLCN1, SCN4A, CACNA1A, ATP2A1, CACNA1S, RYR1, CHRNA1, CHRND, CHRNB1, CHRNB2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
20 %

Alternate names

Hyperekplexia, Hereditary 1; Hkpx1 Is also known as startle disease, familial, startle reaction, exaggerated, exaggerated startle reaction, sthe, stiff-baby syndrome, stiff-man syndrome, congenital, stiff-person syndrome, congenital, kok disease;congenital stiff man syndrome; familial startle disease; hereditary hyperexplexia; hyperekplexia; kok disease; stiff baby syndrome.



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