This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. [books.google.de]

Due to its seizure-like presentation, it is usually misdiagnosed. [neurologyindia.com]

Congenital dislocation of the hip is often present. [medlink.com]

Rarely, hyperekplexia may present antenatally with abnormal intrauterine movements and a peculiar fetal position(2,4). [indianpediatrics.net]

• Malnutrition

  This is the first text to address the issues faced by neurologists who must deliver care with limited resources, often in a setting of tropical diseases and malnutrition, that characterize practice in developing countries. [books.google.com]

Contributors: VBB carried out the workup, follow up, literature review and also drafted the manuscript. SBR was responsible for diagnosis, supervision and overall management. She will stand as the guarantor for the manuscript. Funding: None. [indianpediatrics.net]

Diagnostic workup The diagnosis is based primarily on 3 clinical features (de Koning-Tijssen and Rees 2012): (1) Generalized stiffness immediately after birth (2) Excessive startle reflex to unexpected (particularly auditory) stimuli, without impairment [medlink.com]

Upwards of 90% of people with epilepsy in these areas receive no treatment at all. [books.google.com]

Clonazepam, a gamma aminobutyric acid (GABA) receptor agonist, is the treatment of choice for hypertonia and apnoeic episodes. It, however, may not influence the degree of stiffness significantly. [pmj.bmj.com]

There is little literature on the treatment of these disorders, because of its rarity. [onlinelibrary.wiley.com]

Neurologists must distinguish between spells that are epileptic seizures (and require treatment with anti-epilepsy medication or surgery) and spells from another cause (that require a completely different treatment plan). [theepilepsynetwork.com]

The prognosis is often poor, particularly for those with severe preexisting encephalopathies. Differentiation between startle-induced seizures and exaggerated startle responses can be challenging. [medlink.com]

Prognosis Often poor. Management options* Treatment is often unsatisfactory with clonazepam, clobazam#, carbamazepine, or lamotrigine. [epilepsy.com]

• Treatment with clonazepam is effective with an eventual good prognosis. 1. Tohier C, Roze JC, David A, Veccierini MF, Renaud P, Mouzar D. Hyperekplexia or stiff-baby syndrome. Arch Dis Child 1991; 66: 460-461. 2. Giacoia Gp, Ryan SG. [indianpediatrics.net]

The prognosis is good; the attack frequency usually decreases with age. Recently, there was a major breakthrough in genetic studies. [onlinelibrary.wiley.com]

Epilepsy surgery may be beneficial to those with focal etiology of seizures. [medlink.com]

Etiology Various localized or diffuse static brain pathology, mainly due to pre-, perinatal or early insults. Common in Down syndrome. Diagnostic procedures Brain MRI is necessary, even in neurologically normal patients. [epilepsy.com]

The patient was investigated for possible infectious and malignant etiologies, and the results were negative. Routine fluorine-18–2-fluoro-2-deoxy- D -glucose positron emission tomography/computed tomography (18 FDG PET/CT) was within normal limits. [dovepress.com]

Because there have been no detailed physiologic studies of these culture-specific startle-matching syndromes, their etiology and classification remains debatable. [onlinelibrary.wiley.com]

Etiology and reduced pre- and perinatal optimality. Acta Paediatr 84:1153-1159 (1995). Stephenson JB, Hoffman MC, Russell AJ, Falconer J, Beach RC, et al: The movement disorders of Coffin-Lowry syndrome. Brain Dev 27:108-113 (2005). [karger.com]

Relevant External Links for ARHGEF9 Genetic Association Database (GAD) ARHGEF9 Human Genome Epidemiology (HuGE) Navigator ARHGEF9 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ARHGEF9 No data available for Genatlas for ARHGEF9 Gene The [genecards.org]

Lhatoo SD, Sander JW: The epidemiology of epilepsy and learning disability. Epilepsia 42(suppl 1):6-9, discussion 19-20 (2001). Lowry B, Miller JR, Fraser FC: A new dominant gene mental retardation syndrome. [karger.com]

Epidemiology This is a rare disorder with onset often manifested from the intrauterine life or from birth and any time from neonatal period to adulthood. Both sexes are equally affected. [medlink.com]

Bhatia Abstract Author Information Authors Article Metrics Metrics This review highlights the recent developments in immune-mediated movement disorders and how they reflect on clinical practice and our understanding of the underlying pathophysiological [journals.lww.com]

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. J Neurosci. 2010;30:9612–20. [ncbi.nlm.nih.gov]

The author details clinical manifestations, etiology (including inborn errors of metabolism), investigative procedures, pathophysiology, and management issues (including neurosurgery) of startle-induced epileptic seizures. [medlink.com]

Markand et al. [13] also found a prominent C response in 6 familial cases and concluded that an increased cortical neuronal excitability was the basic pathophysiologic mechanism in hyperekplexia. [kundoc.com]

Hypocretin/orexin and sleep: implications for the pathophysiology and diagnosis of narcolepsy. Curr Opin Neurol 2002, 15 : 739 –745. Paolicchi JM. The spectrum of nonepileptic events in children. Epilepsia 2002, 43 (Suppl. 3): 60 –64. [cambridge.org]

Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]

Prevention Because the disorder may be anticipated in the offspring of an affected parent, early treatment with clonazepam may be expected to prevent the attacks of stiffening as well as the rigidity of affected infants. [medlink.com]

The timely diagnosis of hyperekplexia will allow families to take adequate preventive measures; moreover, prenatal diagnosis can be provided to families when mutation is identified in the proband. Financial support and sponsorship Nil. [neurologyindia.com]

Clonazepam may also help to prevent symptoms of HKPX. The GPHN and ARGHEF9 genes are associated with syndromic forms of HKPX. [invitae.com]