hyperekplexia
startle disease

Because of its multi-functional nature, it is not presumed to be a common genetic source of hyperekplexia.

There are anecdotal reports of the use of Levetiracetam in genetic and acquired hyperekplexia.

In addition, anoxic seizures are a feature of both hyperekplexia and familial rectal pain syndrome.

The first gene linked conclusively to hyperekplexia was GLRA1.

Classic hyperekplexia is caused by genetic mutations in a number of different genes, all of which play an important role in glycine neurotransmission.

Mutations of the SLC6A5 gene have been associated with hyperekplexia in an autosomal recessive manner.

Mutations in the gene have been associated with hyperekplexia, a neurologic syndrome associated with an exaggerated startle reaction.

Other signs and symptoms of hyperekplexia may include episodic neonatal apnea, excessive movement during sleep and the head-retraction reflex.

Hyperekplexia is generally classified as a genetic disease, but some disorders can mimic the exaggerated startle of hyperekplexia.

Mutations in SLC6A5 gene are responsible for a presynaptic form of hyperekplexia, a genetic disease causing increased startle reflex.

The three main signs of hyperekplexia are generalized stiffness, excessive startle beginning at birth and a short period of generalised stiffness following the startle reflex.

A defect within the gene coding for collybistin (ARHGEF9) has also been shown to cause hyperekplexia in concert with epilepsy.

Disruption of GlyR surface expression or reduced ability of expressed GlyRs to conduct chloride ions results in the rare neurological disorder, hyperekplexia.

A heterozygous mutation in this gene has been identified in a sporadic case of hyperekplexia, though experimental data is inconclusive as to whether the mutation is pathogenic.

Genetic analysis within this large Dutch pedigree was later found to carry a mutation within the GLRA1 gene, which was the first gene implicated in hyperekplexia.

GPHN and ARHGEF9 are often included in lists of genetic causes of hyperekplexia - but in fact they produce a much more complex phenotype, very distinct from classical hyperekplexia.

Exaggerated Startle Reaction Familial Startle Disease Hyperekplexia Kok Disease Startle Disease None Hyperexplexia is a rare autosomal dominant, hereditary, neurological disorder that may affect infants as newborns (neonatal) or prior to birth (in utero).

Stiff muscles are also a symptom of startle disease, that can be caused by a mutation in the gephyrin gene.

Exaggerated Startle Reaction Familial Startle Disease Hyperekplexia Kok Disease Startle Disease None Hyperexplexia is a rare autosomal dominant, hereditary, neurological disorder that may affect infants as newborns (neonatal) or prior to birth (in utero).