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A confusing coincidence: neonatal hypoglycemic seizures and hyperekplexia.

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Prijava / prijava

Hyperekplexia is a rare, nonepileptic, genetic, or sporadic neurologic disorder characterized by startle responses to acoustic, optic, or tactile stimuli. Genetic defects in glycine receptors as well as encephalitis, tumors, inflammation, and disgenesis are among the etiologic causes of the disease.

Hyperekplexia (startle disease) mimicking neonatal seizures: report of one case.

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Prijava / prijava

Herein we report a case of a male infant with hyperekplexia. He was born after an uneventful pregnancy to healthy unrelated parents. At 2 days, he began to have frequent episodes of apnea accompanied with generalized tonic posture. Phenobarbital had been prescribed for the suspicion of neonatal

Clinical and inheritance profiles of hyperekplexia in Jordan.

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Prijava / prijava

Hyperekplexia is a rare nonepileptic disorder characterized by excessive startle response to acoustic, visual, or other stimuli. Patients with hyperekplexia are often misdiagnosed as having epilepsy. The presentation modalities, phenotypes, and the modes of inheritance among patients with

Differential diagnosis of epileptic seizures in infancy including the neonatal period.

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Prijava / prijava

It is important to accurately diagnose epileptic seizures in early life to optimise management and prognosis. Conversely, however, many different movements and behaviours may manifest in the neonatal period and infancy that may not have at their root cause a change in electrical activity of the

Neonatal startle disease with severe apnea episodes: report of one case.

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Prijava / prijava

Neonatal startle disease or stiff baby syndrome is a rare hereditary disease. It is often misdiagnosed as either neonatal seizure or cerebral palsy because of its characteristic exaggerated fits, which can be activated by external voice or touch. In fact, the exact diagnosis can be made easily

Hyperekplexia: A forgotten diagnosis clinched by next-generation sequencing.

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Prijava / prijava

Hyperekplexia is a rare early neonatal onset, potentially treatable, neurological disorder, characterized by a triad of immediate neonatal-onset stiffness, an exaggerated startle reflex in response to tactile or auditory stimuli followed by short periodical generalized stiffness. It is a monogenic

Neonatal hyperekplexia: a case report.

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Prijava / prijava

We report the case of a baby with transient generalized stiffness noticeable from the first days of life, hyperreflexia, massive jerks in response to sudden tactile and acoustic stimuli, and long-lasting myoclonic jerks closely resembling epileptic seizures. The father and paternal grandfather both

Top of Basilar Syndrome Presenting With Hyperekplexia Initially Diagnosed as a Convulsive Status Epilepticus

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Prijava / prijava

Background: Hyperekplexia is a rare neurologic disorder characterized by pronounced startle responses to tactile or acoustic stimuli and increase tone. Acquired hyperekplexia is usually seen in brainstem pathologies and when it develops

Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study.

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Prijava / prijava

We report a newborn with exaggerated startle reactions and stiffness of neonatal onset, the prototypical signs of hyperekplexia. Startle and flexor spasms, leading to apnoea, did not respond to treatment with clonazepam but did partially to sodium valproate. Molecular analysis of GLRA1 revealed no

Complete heart block in nonfamilial hyperekplexia.

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Prijava / prijava

An infant with nonfamilial hyperekplexia had multiple episodes of tonic spasms that mimicked tonic seizures. They were accompanied by complete heart block and apnea. These episodes did not correlate with electroencephalographic epileptiform changes and were partially responsive to clonazepam,

Startle response: epileptic or non-epileptic? The case for "flash" SMA reflex seizures.

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Prijava / prijava

A 19-year-old woman complained of long-standing, frequent, debilitating brusque movements triggered by unexpected stimuli. She was neurologically normal and neuroimaging was also normal. Conspicuous startle reactions were easily reproduced under EEG and video monitoring: the interictal EEG was

The "startle disease" in brain-damaged patients: report of a case.

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Prijava / prijava

It is reported about one case of so-called startle disease in brain-damaged patients in a 7 year-old girl. Furthermore, two related, non-epileptic paroxysmal startle syndromes, the "essential startle disease" and the "hereditary startle syndrome" are described and contrasted with "epileptic seizures

Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene?

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Prijava / prijava

Hyperekplexia (HPX) or startle disease is a rare hereditary neurological disorder characterized by generalized stiffness, excessive startle reflex to unexpected stimuli and a short period of generalized stiffness following the startle response, and can be complicated by umbilical or inguinal hernia,

Hyperekplexia in neonates.

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Prijava / prijava

Hyperekplexia (startle disease) is a rare non-epileptic disorder characterised by an exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, generalised muscular rigidity, and nocturnal myoclonus. The genetic basis is a mutation usually of the arginine

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.

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Prijava / prijava

BACKGROUND Asparagine synthetase deficiency (OMIM# 615574) is a very rare newly described neurometabolic disorder characterized by congenital microcephaly and severe global developmental delay, associated with intractable seizures or hyperekplexia. Brain MRI typically shows cerebral atrophy with

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