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]

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]

• Gaucher Disease

  Neurology 31: 581–589 PubMed Google Scholar King JO (1975) Progressive myoclonic epilepsy due to Gaucher’s disease in an adult. [link.springer.com]

  Disease- Ophthalmoplegia- Cardiovascular Calcification Syndrome, Hereditary Late-Onset Parkinson Disease AD,AR 100 469 of 471 GBE1 Glycogen Storage Disease IV, Adult Polyglucosan Body Disease AR 99.95 71 of 74 GCK Permanent Neonatal Diabetes Mellitus [igenomix.es]

  Spastic paraplegia POLR3A Leukodystrophy, hypomyelinating POLR3B Leukodystrophy, hypomyelinating PSAP Combined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiency, Krabbe disease, atypical, Metachromatic leukodystrophy due to [genda.com.ar]

• Rigor

  Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. [blueprintgenetics.com]

  In adults, this syndrome may be associated with other malignancies such as lung cancer, thus a rigorous evaluation for an underlying malignancy should be considered. [bcm.edu]

• Pathologist

  PMID: 25597511 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

• Hodgkin Lymphoma

  Over 90% of these patients have Hodgkin lymphoma. [news-medical.net]

• Inflammation

  Dopamine-D2-receptor antibodies These are associated with basal ganglia inflammation in children and with Sydenham’s chorea. [news-medical.net]

• Heart Disease

  Copper Transport Disease Kinky Hair Disease Menkes Syndrome Steely Hair Disease MENKE MK MNK 309400 Genetic Test Registry Mental Retardation, X-Linked, Syndromic 13 Mental Retardation With Psychosis, Pyramidal Signs, And Macroorchidism Mental Retardation [ukgtn.nhs.uk]

• Neonatal Seizures

  Initially described as the gene for Benign Familial Neonatal Seizures, dominant negative de novo mutations in this gene are also found in epileptic encephalopathies with neonatal onset. EIEE8 – ARHGEF9. [epilepsygenetics.net]

  The possibility of neonatal seizures was excluded as the episodes were state related, could be induced and video EEG did not show any ictal correlate. [indianpediatrics.net]

  KCNA2 Epileptic encephalopathy, early infantile KCNB1 Early infantile epileptic encephalopathy KCNQ2 Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia KCNQ3 Seizures, benign neonatal KCNT1 Epilepsy, nocturnal frontal [genda.com.ar]

  AD 335 274 KCNQ3 Seizures, benign neonatal AD 20 24 KCNT1 Epilepsy, nocturnal frontal lobe AD 31 39 KIF1A Spastic paraplegia, Neuropathy, hereditary sensory, Mental retardation AD/AR 63 42 LRPPRC Leigh syndrome, French-Canadian type AR 55 17 LYRM7 # [blueprintgenetics.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]

• Neutropenia

  CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am. J. Hum. Genet. 2015; 96(2):258-65. [invitae.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]

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]

Botulinum toxin treatment of facial myoclonus in suspected Rasmussen encephalitis. Mov Disord. 2006;21:1500-2. Caviness JN. Treatment of Myoclonus. Neurotherapeutics. 2014;11(1):188-200. Caviness JN, Brown P. [bcm.edu]

Find diagnostic and treatment information quickly and easily thanks to a highly illustrated, easy-to-read format that highlights key details. [books.google.es]

Adequate therapy is crucial for prognosis. [glosbe.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]

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]

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]

The nosology and pathophysiology of myoclonus. Mov Disord 1982:196–248. Google Scholar Fahn S, Marsden CD, Van Woert MH. Definition and classification of myoclonus. Adv Neurol 1986; 43:1–5. CAS PubMed Google Scholar Nirenberg MJ, Frucht SJ. [link.springer.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]

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]