Genomics Precision Diagnostic > Neurology Precision Panel > Hyperekplexia Precision Panel

Hyperekplexia Precision Panel – 18 genes

Hyperekplexia, also known as stiff baby syndrome or startle disease, is a rare hereditary neurological disease associated to a variety of gene mutations that affect the glycine receptor. This disorder is characterized by a triad of generalized stiffness while awake, nocturnal myoclonus and exaggerated startle reflex.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Hyperekplexia, also known as stiff baby syndrome or startle disease, is a rare hereditary neurological disease associated to a variety of gene mutations that affect the glycine receptor. This disorder is characterized by a triad of generalized stiffness while awake, nocturnal myoclonus and exaggerated startle reflex. These features often appear at birth alongside episodes of hypertonia or tonic spasms upon awakening. When severe, it may interfere with breathing causing irreversible brain damage. Hyperekplexia is usually misdiagnosed as a form epilepsy. It is inherited mostly as an autosomal dominant trait but can also follow autosomal recessive or X-linked inheritance.
The Igenomix Hyperekplexia Precision Panel  can serve as an accurate and directed diagnostic tool as well as a differential diagnosis of seizures ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Hyperekplexia Precision Panel is indicated in patients with a clinical suspicion or diagnosis presenting with or without the following manifestations:
- Arching of the head alongside the startle reaction
- Jerking movements after startle reaction
- Severe muscle tension
- Lack of movement or slower than normal
- Overactive reflexes
- Intermittent apnea
- Unsteady gait

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular diagnosis for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team in the form of pharmacologic therapy with antiepileptic drugs such as clonazepam.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ARHGEF9*	Hyperekplexia, Epilepsy	X,XR,G	100	–
*ASNS*	Asparagine Synthetase Deficiency	AR	99.98	37 of 37
*CACNA1A*	Epileptic Encephalopathy , Episodic And Spinocerebellar Ataxia, Migraine, Paroxysmal Torticollis	AD	96.13	249 of 266
*CLPB*	3-Methylglutaconic Aciduria, Cataracts, Neutropenia	AR	96	26 of 26
*CRLF1*	Cold-Induced Sweating Syndrome, Crisponi Syndrome, Idiopathic Achalasia	AR	91.53	31 of 33
*CTNNB1*	Colorectal Cancer, Exudative Vitreoretinopathy, Hepatocellular Carcinoma, Medulloblastoma, Mental Retardation, Pilomatrixoma, Craniopharyngioma, Desmoid Tumor, Spastic Diplegia	AD,AR	100	63 of 63
*FKTN*	Cardiomyopathy, Muscular Dystrophy- Dystroglycanopathy, Limb Girdle Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	98	54 of 56
*GLRA1*	Hyperekplexia	AD,AR	99.6	71 of 72
*GLRB*	Hyperekplexia	AR	99.3	16 of 18
*GPHN*	Hyperekplexia, Molybdenum Cofactor Deficiency	AD,AR	99.2	6 of 6
*HEXA*	Tay-Sachs Disease	AR	100	205 of 206
*RPS6KA3*	Coffin-Lowry Syndrome, Mental Retardation	X,XD,G	99.95	–
*SCN8A*	Cognitive Impairment, Cerebellar Ataxia, Epileptic Encephalopathy, Myoclonus, Seizures, Convulsions, Choreoathetosis	AD	97.85	156 of 172
*SLC6A5*	Hyperekplexia	AD,AR	100	37 of 37
*SLC6A9*	Glycine Encephalopathy	AR	99.99	5 of 5
*SUOX*	Sulfocysteinuria	AR	99.98	28 of 28
*TRAK1*	Epileptic Encephalopathy	AR	99.28	7 of 7
*TSEN54*	Encephalopathy, Pontocerebella r Hypoplasia	AR	96.94	20 of 22

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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