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8,297 Possible Causes for Most Patients Have Adult Onset of Symptoms, Mutation in the CALM2 Gene, Seizure

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    Fatigue Seizures Growth delay Copyright Nucleus Medical Media, Inc.[cancercarewny.com] The onset of symptoms can occur in childhood or adulthood; most patients have adult onset.[rarediseases.org] There are autosomal recessive forms of GSD IX (caused by mutations in PHKB, PHKG1, PHKG2, CALM1, CALM2, and CALM3 ), a X-linked liver form (caused by mutations in PHKA2 ),[bmcmedgenet.biomedcentral.com]

  • Ventricular Arrhythmia

    Patients usually present with hypocalcemia-induced seizures or tetany, whereas no case of hypocalcemia-induced cardiac arrhythmia in PHP has been described to date.[ncbi.nlm.nih.gov] LQT15LQT15 is caused by heterozygous mutations in the CALM2 (Calmodulin 2) gene (114182) on chromosome 2p21.[en.wikipedia.org] […] ventricular arrhythmias induced by genetic events present usually in early life (mean onset of symptoms in long QT syndrome is 12 years of age) manifest through syncope, seizures[symptoma.com]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Niemann-Pick Disease Type C

    Miglustat improved the neurological status of our patient, including seizure control.[ncbi.nlm.nih.gov] Fourteen patients diagnosed based on visceral symptoms and/or sibling history, confirmed in most cases by genetic analysis, did not have any neurological manifestations at[ncbi.nlm.nih.gov] adult NPC patients evaluated in movement disorder clinics developed their initial symptoms in childhood and have had a slowly progressive course.[jnnp.bmj.com]

    Missing: Mutation in the CALM2 Gene
  • CINCA Syndrome

    Headache, vomiting, altered mental state, intellectual disability, seizures, episodes of hemiplegia and chronic meningitis-like states are CNS manifestations of the disease[symptoma.com] […] will not develop symptoms until they are adults.[saidsupport.org] CINCA also causes headaches, fever, seizures, and vomiting resulting from chronic meningitis, (inflammation of the tissue that covers and protects the brain and spinal cord[contact.org.uk]

    Missing: Mutation in the CALM2 Gene
  • Jacksonian Seizure

    Seizure redirects here. For non epileptic seizures, see Non epileptic seizure. For other uses, see Seizure (disambiguation).[medicine.academic.ru] Seizures are the most common first (onset) symptom leading to a brain tumour diagnosis in adults.[thebraintumourcharity.org] A Jacksonian seizure is a type of focal partial seizure, also known as a simple partial seizure.[cedars-sinai.edu]

    Missing: Mutation in the CALM2 Gene
  • Meningoencephalitis

    CONCLUSIONS A diagnosis of DHZ should be considered in immunosuppressed patients treated with steroids who present with seizures.[ncbi.nlm.nih.gov] PAM (Case 5) PAM is caused by Naegleria fowleri, with most patients having an acute onset of symptoms with rapid progression and almost always fatal meningoencephalitis within[ajnr.org] None presented with seizure or ataxia.[oatext.com]

    Missing: Mutation in the CALM2 Gene
  • Long QT Syndrome

    RESULTS: Compared to LQTS - participants, there was a higher prevalence of LQTS1, LQTS2, and LQTS participants classified as having seizures (p 0.001, i.e., history of seizures[ncbi.nlm.nih.gov] RESULTS: A novel de novo CALM2 mutation (D132H) was discovered by candidate gene screening in a male infant with prenatal bradycardia born to healthy parents.[ncbi.nlm.nih.gov] LQT15LQT15 is caused by heterozygous mutations in the CALM2 (Calmodulin 2) gene (114182) on chromosome 2p21.[en.wikipedia.org]

    Missing: Most Patients Have Adult Onset of Symptoms
  • Astroblastoma

    The risk of seizures is greatest when the tumors have a central location, slow growth rate, and when multiple lesions are present.[seminoncol.org] Seizures are the most common first (onset) symptom leading to a brain tumour diagnosis in adults.[thebraintumourcharity.org] Headache, seizures, vomiting, and focal neurologic deficits are the most commonly mentioned symptoms [ 2, 4, 7 ].[dx.doi.org]

    Missing: Mutation in the CALM2 Gene
  • Hypoglycemia

    Postoperatively the patient demonstrated both generalized and focal seizure activity.[ncbi.nlm.nih.gov] Severe hypoglycemia eventually lead to glucose deprivation of the central nervous system resulting in hunger; sweating; paresthesia; impaired mental function; seizures; coma[icd9data.com] We present the case of a 61-year-old woman with severe hypoglycemia that induced seizures.[ncbi.nlm.nih.gov]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene
  • Alcohol Abuse

    The symptoms associated with alcohol poisoning include but are not limited to irregular or slow breathing, low body temperature, paleness, and seizures.[americanaddictioncenters.org] Heavy drinkers may experience tremors, panic attacks, confusion, hallucinations, and seizures.[health.harvard.edu] In severe cases, you could have a fever, seizures, or hallucinations. If you have any of these symptoms, your drinking may already be a cause for concern.[medlineplus.gov]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene

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