Presentation
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]
Material is presented in a user-friendly, interactive manner, with abundant case material. Epilepsy is one of the most common serious primary brain disorders, affecting forty million people worldwide. [books.google.com]
Rarely, hyperekplexia may present antenatally with abnormal intrauterine movements and a peculiar fetal position(2,4). [indianpediatrics.net]
Neurologic
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Focal Seizure
Focal Seizures (Partial Seizures) Simple partial epileptic seizures confined to a small part of the brain individuals have normal awareness of their surroundings may experience the jerk of an arm or hand Complex partial epileptic seizures confined to [barrowneuro.org]
The retained awareness and history of triggers should prevent misdiagnosis as focal seizures. [epilepsydiagnosis.org]
seizures in infancy (EMFSI), epileptic encephalopathy, autosomal dominant nocturnal frontal lobe epilepsy 23086396,23086397,26122718,26140313 LGI1 Autosomal dominant partial epilepsy with auditory features (ADPEAF) 20301709 MBD5 Severe ID epilepsy, most [tests.labmed.washington.edu]
Although the short duration of the repeated clinical episodes may have suggested repeated absence seizures, we underline that recurrent motor manifestations suggestive of focal seizures as well as generalized continuous epileptic activity usually associated [karger.com]
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Generalized Tonic-Clonic Seizure
Except for beginning locally and spreading, partial seizures look the same as the generalized tonic-clonic seizure, described below. [barrowneuro.org]
Tonic-Clonic Seizures, Included Myoclonic Epilepsy, Severe, Of Infancy Severe Myoclonic Epilepsy Of Infancy EIEE6 EIEE6 SME SMEI 607208 Genetic Test Registry Epileptic Encephalopathy, Early Infantile, 7 EIEE7 613720 Genetic Test Registry Epileptic Encephalopathy [ukgtn.nhs.uk]
Benign neonatal sleep myoclonus Benign neonatal sleep myoclonus is a normal sleep phenomenon which can be very frequent in some infants leading to misdiagnosis as myoclonic seizures or generalized tonic-clonic seizures. [epilepsydiagnosis.org]
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Generalized Seizure
Generalized Epileptic Seizures Generalized epileptic seizures start on both sides of the brain at once genetic or hereditary underlying cause generalized seizures include: absence seizures tonic-clonic seizures myoclonic seizures atonic seizures (also [barrowneuro.org]
Workup
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]
Treatment
Upwards of 90% of people with epilepsy in these areas receive no treatment at all. [books.google.com]
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]
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]
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]
Prognosis
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]
Etiology
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]
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]
Because there have been no detailed physiologic studies of these culture-specific startle-matching syndromes, their etiology and classification remains debatable. [onlinelibrary.wiley.com]
Epidemiology
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]
Pathophysiology
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]
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]
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]
His translational research-oriented laboratory focuses on autoimmune mechanisms in autism, PANDAS, the neurobiology of tics, and the pathophysiology of stereotypic movements in animal models. [books.google.es]
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]
Prevention
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]
Clonazepam may also help to prevent symptoms of HKPX. The GPHN and ARGHEF9 genes are associated with syndromic forms of HKPX. [invitae.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]
This medication is directly injected into the muscles causing the involuntary jerks at relatively low doses, allowing for relaxation of the muscles, thus preventing the spasms. [bcm.edu]
Early diagnosis and treatment are important, as they not only prevent injuries but may also influence the quality of life of a patient. [e-jmd.org]