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3,775 Possible Causes for Autosomal Dominant, Pediatric Disorder, Seizure

  • Acute Hepatic Porphyria

    Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition.[mayomedicallaboratories.com] Abstract Seizures may occur in acute intermittent porphyria or other hepatic porphyrias.[ncbi.nlm.nih.gov] Apart from an autosomal recessive pattern of inheritance seen in ADP, all hepatic porphyrias are caused by autosomal dominant mutations, leading to accumulation of neurotoxic[symptoma.com]

  • Pseudohypoparathyroidism

    Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism . 4th ed.[pedsinreview.aappublications.org] Abstract We describe a patient who presented with epileptic seizures unresponsive to anticonvulsive treatment.[ncbi.nlm.nih.gov] PHP-Ib familial form, with an autosomal dominant pattern of transmission (autosomal dominant pseudohypoparathyroidism type Ib [AD-PHP-Ib]), is typically characterized by an[ncbi.nlm.nih.gov]

  • Rolandic Epilepsy

    Sarah J Spence and Mark T Schneider, The Role of Epilepsy and Epileptiform EEGs in Autism Spectrum Disorders, Pediatric Research, 65, 6, (599), (2009).[doi.org] Therapy is often unnecessary and seizures spontaneously end at puberty.[ncbi.nlm.nih.gov] ADRESD is inherited in an autosomal dominant manner with anticipation.[ncbi.nlm.nih.gov]

  • Cryopyrin-Associated Periodic Syndrome

    Author information 1 a Division of Pediatric Rheumatology, Reference Center for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Le Kremlin Bicêtre[ncbi.nlm.nih.gov] Onset, severity and complications (mainly retardation, seizures, destructive arthropathy and amyloidosis) depend on the specific mutation.[ncbi.nlm.nih.gov] The disease was inherited as an autosomal dominant trait.[ncbi.nlm.nih.gov]

  • Tuberous Sclerosis

    Early diagnosis may reduce morbidity and mortality. tuberous sclerosis complex diagnosis epilepsy seizures neurocutaneous disorders Accepted September 20, 2010.[pediatrics.aappublications.org] KEYWORDS: clinically silent seizure; ictal electroencephalogram; neonatal seizure; polygraph; tuberous sclerosis[ncbi.nlm.nih.gov] In familial cases, TSC is an autosomal dominant disorder, which means that the disorder can be transmitted directly from parent to child.[sharecare.com]

  • Hypophosphatasia

    - PEDIATRIC Patients » Helpful information about Applying for Disability Benefits with an Endocrine Related Disorder - ADULT patients » Click here for member benefits or[magicfoundation.org] Within the first day of life, seizures (focal clonic and tonic) started. The seizures were refractory to phenobarbital and other antiepileptic drugs.[ncbi.nlm.nih.gov] […] recessive versus autosomal dominant transmission from among several hundred, usually missense, TNSALP mutations.[ncbi.nlm.nih.gov]

  • Hereditary Coproporphyria

    We have reported a case of normeperidine-induced seizures in a patient with hereditary coproporphyria.[ncbi.nlm.nih.gov] Abstract Genetic defects of coproporphyrinogen oxidase (CPO) lead to hereditary coproporphyria, an inherited autosomal dominant porphyria.[ncbi.nlm.nih.gov] Abstract Hereditary coproporphyria (HCP) is an autosomal dominant-inherited disease of haem biosynthesis caused by partial deficiency of the enzyme coproporphyrinogen oxidase[ncbi.nlm.nih.gov]

  • Pallister-Hall Syndrome

    Explore the impact of today’s advances and challenges, including explosive growth in molecular biology, sophisticated imaging techniques, and an increase in both pediatric[books.google.com] Records for all patients were reviewed for the following information: presence of seizures, age at seizure onset, seizure type, seizure frequency, number of antiepileptic[ncbi.nlm.nih.gov] We conclude that the most likely cause of the Pallister-Hall syndrome is a mutation in a gene inherited in an autosomal dominant manner.[ncbi.nlm.nih.gov]

  • Febrile Convulsions

    Seizure disorders. The Pediatr Clin North Am, Vol-36 (2). WB Saunders Company 1989:375-82. 7. Lorber J, Sunderland R.[ayubmed.edu.pk] Overview of Febrile Seizures Febrile seizures, also called fever-induced seizures or febrile convulsions, are seizures caused by fever.[healthcommunities.com] PURPOSE: Two large Canadian kindreds appearing to segregate febrile convulsions as an autosomal dominant trait were evaluated for linkage to three known FC loci, as well as[ncbi.nlm.nih.gov]

  • X-Linked Hypophosphatemia

    Genetic disorders of phosphate regulation. Pediatr Nephrol. 2012;27(9):1477-87. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL.[rarediseases.org] More severe cases can present with neurological complaints (altered speech, confusion, seizures, hearing impairment), bone pain, poor teeth status, and fatigue.[symptoma.com] BACKGROUND: Mutations in fibroblast growth factor 23 (FGF-23) cause autosomal dominant hypophosphatemic rickets.[ncbi.nlm.nih.gov]

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