SeizuresDeficiencyEncephalopathyTuberous-sclerosNeurologicDysautonomiaImmunodeficiencyDisorderPhenotypesDysplasiaDiagnosisCysticAdultsDiseaseClinicalTypePrognosisPathwaysDisordersStructuralCommonlyRareTreatmentBenignSpinal musculaAutosomal dominantMicrodeletion syndromeMutationsAbnormalitiesDisordersChildhoodGeneSevereDominantFeaturesMuscleSimilar
Seizures17
- Childhood Absence Epilepsy, also known as pyknolepsy, is related to juvenile absence epilepsy and epilepsy, idiopathic generalized, and has symptoms including seizures, absence attacks and absence seizures. (silexon.tech)
- Neuromascular abnormality presenting with ataxia(ataxia-telangiectasia) , flaccid paralysis after live poliovirus immunization (combined or antibody deficiencies) ,pernicious anaemia (CVID), cognitive impairment, nystagmus and cerebellar, spinal and peripheral neuropathies(Chediac-Higashi syndrome), seizures, ataxia and occulomotor and reflex abnormalities(Griscelli syndrome) are examples of neurologic features seen in different immunodeficiency syndromes. (ac.ir)
- Epilepsy is a disorder of the brain characterized by an enduring predisposition to generate seizures and by the neurobiologic, cognitive, psychological, and social consequences of this condition. (clinicalgate.com)
- Thus, the occurrence of a single seizure or of febrile seizures does not necessarily imply the diagnosis of epilepsy. (clinicalgate.com)
- Seizure disorder is a general term that is usually used to include any one of several disorders including epilepsy, febrile seizures, and possibly single seizures and seizures secondary to metabolic, infectious, or other etiologies (e.g., hypocalcemia, meningitis). (clinicalgate.com)
- This classification has to be distinguished from the classification of epileptic seizures that refers to single events rather than to clinical syndromes. (clinicalgate.com)
- Epilepsy is a complex medical condition that goes beyond seizures. (epilepsy.com)
- The network conducts and facilitates research to improve outcomes for people with rare conditions associated with epilepsy and seizures. (epilepsy.com)
- Start talking about seizures this National Epilepsy Awareness Month. (epilepsy.com)
- Epilepsy is said to have a structural cause if there is a distinct abnormal structural cause present in the brain that is known to substantially increase the risk of seizures. (epilepsy.com)
- Structural epilepsies in older children and adults most commonly present with focal seizures and have very similar symptoms from event to event. (epilepsy.com)
- Infants and young children with structural epilepsies may also present with focal seizures or may present with other seizure types such as infantile spasms or tonic seizures . (epilepsy.com)
- These injuries lead to the brain being more susceptible to seizures and epilepsy can occur. (epilepsy.com)
- While many persons with structural cases will have their seizures controlled with anti-seizure medicine, a proportion will continue to have seizures, and will develop drug-resistant epilepsy. (epilepsy.com)
- Many persons with structural epilepsy and drug-resistant seizures can be candidates for epilepsy surgery. (epilepsy.com)
- It is recommended that persons who continue to have seizures despite trials of two anti-seizure medications be seen at a Comprehensive Epilepsy Center . (epilepsy.com)
- Call our Epilepsy and Seizures 24/7 Helpline and talk with an epilepsy information specialist or submit a question online. (epilepsy.com)
Deficiency1
- Biotinidase deficiency is a treatable cause of infantile epilepsy and the presentation can be nonspecific. (blogspot.com)
Encephalopathy1
- An epileptic encephalopathy is an epilepsy syndrome in which the severe EEG abnormality is thought to result in cognitive and other impairments in the patient. (clinicalgate.com)
Tuberous-scleros1
- The rare epilepsies with the highest number of co-occurring conditions reported were Aicardi Syndrome, Phelan-McDermid Syndrome, and tuberous-sclerosis complex . (epilepsy.com)
Neurologic3
- Idiopathic epilepsy is an epilepsy syndrome that is genetic or presumed genetic and in which there is no underlying disorder affecting development or other neurologic function (e.g., petit mal epilepsy). (clinicalgate.com)
- A cryptogenic epilepsy (also termed presumed symptomatic epilepsy ) is an epilepsy syndrome in which there is a presumed underlying brain disorder causing the epilepsy and affecting neurologic function, but the underlying disorder is not known. (clinicalgate.com)
- Neurocutaneous syndromes are a group of neurologic (brain, spine, and peripheral nerve) disorders that can cause cutaneous (skin) manifestations, such as tumors that grow inside the brain, spinal cord, organs, skin, and skeletal bones. (epilepsy.com)
Dysautonomia1
- Familial dysautonomia (FD) is caused by a point mutation in I kappa B (IkB) kinase complex-associated protein (IKBKAP)8. (biomedcentral.com)
Immunodeficiency1
- The aim of this study is to review the neurological manifestations of different primary immunodeficiency syndromes. (ac.ir)
Disorder4
- Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. (nih.gov)
- the prognosis depends on the underlying disorder, including its reversibility or treatability and the likelihood of developing epilepsy from it. (clinicalgate.com)
- An epileptic syndrome is a disorder that manifests one or more specific seizure types and has a specific age of onset and a specific prognosis. (clinicalgate.com)
- Symptomatic epilepsy is an epilepsy syndrome caused by an underlying brain disorder (e.g., epilepsy secondary to tuberous sclerosis). (clinicalgate.com)
Phenotypes1
Dysplasia1
- Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. (sjelden.no)
Diagnosis5
- Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective. (nih.gov)
- Congenital central hypoventilation syndrome: diagnosis and management. (nih.gov)
- The clinical diagnosis of epilepsy usually requires the occurrence of at least 1 unprovoked epileptic seizure with either a second such seizure or enough EEG and clinical information to convincingly demonstrate an enduring predisposition to develop recurrences. (clinicalgate.com)
- The goals of REN are to unlock the causes of rare epilepsies, improve diagnosis (avoiding delay and misdiagnosis), improve treatment and quality of life, and find cures. (epilepsy.com)
- The survey's findings suggest that for those diagnosed with a rare epilepsy syndrome, co-occurring conditions should be screened for and considered in diagnosis, management, and multidisciplinary care. (epilepsy.com)
Cystic1
- When your patients are looking to understand if they are a carrier for specific genetic conditions like cystic fibrosis, spinal muscular atrophy, fragile X syndrome, or Tay-Sachs disease, appropriate genetic screening and actionable results are essential . (questwomenshealth.com)
Adults1
- Compared to other epilepsies (either occurring in children or adults), rare epilepsy syndromes have a higher number of co-occurring conditions. (epilepsy.com)
Disease3
- Note: If you'd like to get a target analysis report for Absence Epilepsy , or if you are interested to learn how our AI-powered BDE-Chem can design therapeutic molecules to interact with the target(s) above against the disease of Absence Epilepsy at a cost 90% lower than traditional approaches, please feel free to contact us at [email protected] . (silexon.tech)
- Early onset dystonia exclusion criteria (29483) - Underlying cause for clinical syndrome identified, e.g. cerebral palsy, dopa-responsive dystonia, structural brain lesion, Wilson disease, psychogenic dystonia Prior genetic testing guidance (29483) - Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. (genomicsengland.co.uk)
- Conventional brain MRI findings of patients with neuronal intranuclear hyaline inclusion disease strongly resemble those seen in fragile X-associated tremor/ataxia syndrome (FXTAS) , including symmetric white matter involvement in combination with hyperintense changes of the middle cerebellar peduncles 4 . (radiopaedia.org)
Clinical1
- For more information about the Rare Epilepsy Network or the Epilepsy Learning Healthcare System, please contact the Director of Clinical Research Dr. Kathleen Farrell ( [email protected] ). (epilepsy.com)
Type2
- In general, seizure type is the primary determinant of the type of medications the patient is likely to respond to, and the epilepsy syndrome determines the type of prognosis one could expect. (clinicalgate.com)
- Noen utvikler en spesiell type anfall med plutselig tap av muskeltonus utløst av taktil- eller hørselsstimulus (Stimulus Induced Drop Attacs/SIDA). (sjelden.no)
Prognosis1
- Future studies will examine how treatment can impact the outcomes and prognosis of comorbid conditions in people living with rare epilepsy syndromes. (epilepsy.com)
Pathways1
- An important gene associated with Childhood Absence Epilepsy is PCDH19 (Protocadherin 19), and among its related pathways/superpathways are CREB Pathway and Sweet Taste Signaling. (silexon.tech)
Disorders1
- 3. Fernández-Alvarez E, Aicardi J. Movement disorders in children. (radiopaedia.org)
Structural4
- What Is Structural Epilepsy? (epilepsy.com)
- What Are The Symptoms Of A Structural Epilepsy? (epilepsy.com)
- In most persons with a structural epilepsy, the brain MRI is abnormal. (epilepsy.com)
- How Do You Get A Structural Epilepsy? (epilepsy.com)
Commonly1
- For example, mental health , memory , and sleep issues are commonly reported as issues for people living with epilepsy. (epilepsy.com)
Rare8
- Few studies have examined how these co-occurring conditions impact our rare epilepsy community. (epilepsy.com)
- It is important to study these issues if we want to fully understand the experience of having a rare epilepsy. (epilepsy.com)
- Understanding comorbidities can improve overall care and guide conversations with providers about optimal treatments to improve quality of life for families living with a rare epilepsy. (epilepsy.com)
- The Rare Epilepsy Network (REN) is a network of people impacted by rare epilepsy and their loved ones. (epilepsy.com)
- A key component of the REN is a patient registry that collects information about people living with rare epilepsies. (epilepsy.com)
- 795 participants represent over 30 different rare epilepsy syndromes responded to the survey. (epilepsy.com)
- Different rare epilepsies had slightly different issues. (epilepsy.com)
- It is a partnership between the Foundation, over 30 rare epilepsy organizations, Columbia University, and Research Triangle International (RTI). (epilepsy.com)
Treatment1
- Epilepsy centers provide you with a team of specialists to help you diagnose your epilepsy and explore treatment options. (epilepsy.com)
Benign1
- the kloridkanalrubbning) generalized epilepsy with febrile seizures, autosomal dominant nokturnal frontallob-epilepsi, benign familjär neonatal convulsion och During the course of acute febrile illness, encephalitides, such as opisthotonos, convulsions, coma and extrapyramidal symptoms have been If an episode of febrile neutropenia, prolonged neutropenia or neutropenic infection Rare cases of convulsion or transient loss of consciousness have been Antipyretic agents for preventing recurrences of febrile seizures: randomized controlled trial. (netlify.app)
Spinal muscula1
- 5. Hereditary disorders of nerve and muscle such as infantile spinal muscular atrophy, Charcot-Marie-Tooth disease, hereditary sensory and autonomic neuropathies, genetic myasthenic syndromes, metabolic myopathies, muscular dystrophies, and myotonias. (nih.gov)
Autosomal dominant1
- Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance. (beds.ac.uk)
Microdeletion syndrome1
- 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. (sjelden.no)
Mutations1
- Based on the patient's family history, symmetrical calcification foci in the bilateral caudate nucleus head, thalamus, cerebellum and parietal lobe indicated by head CT, and gene test results, the diagnosis of familial Fahr disease caused by mutations in the SLC20A2 gene, c.1097delG p.G366fs*89) was confirmed. (bvsalud.org)
Abnormalities1
- There are numerous other neurological disorders that also result from genetic abnormalities such as the Laurence-Moon-Bardet-Biedl, Aicardi, Sjogren-Larsson, Prader-Willi and Angelman syndromes. (nih.gov)
Disorders4
- 5. Disorders of purine metabolism such as Lesch-Nyhan syndrome, and porphyria. (nih.gov)
- 6. Disorders of amino acid metabolism and transport such as phenylketonuria, homocystinuria, maple syrup urine disease, urea cycle defects, Hartnup disease, and Lowe syndrome. (nih.gov)
- 7. Disorders of mucopolysaccharide metabolism such as Hunter, Hurler, and Sanfilippo syndromes. (nih.gov)
- 8. Disorders of metal metabolism such as Wilson disease and Menkes syndrome. (nih.gov)
Childhood1
Gene2
- The causative gene of familial PBC is SLC20A2, which encodes the phosphate transporter PiT-2. (bvsalud.org)
- Here we report a case of familial basal ganglia calcification caused by a frameshift mutation in the SLC20A2 gene. (bvsalud.org)
Severe1
- The infantile form is often the most severe and portends a worse prognosis with high mortality despite vitamin supplementation. (bvsalud.org)
Dominant1
- Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). (beds.ac.uk)
Features1
- In this report, we discuss the differential for infantile BTRBGD, the clinical and radiologic features of BTRBGD, and describe a rapid, positive response to early vitamin supplementation in an infant with a likely pathogenic novel variant in SLC19A3. (bvsalud.org)