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15 Possible Causes for Mutation in the CALM2 Gene, Seizure

  • 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]

  • 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]

  • Long QT Syndrome 13

    But Grandmother Jackie Renfrow can't forget the beginning of her darkest days, a call that her son had a seizure.[wthr.com] This prompted candidate-gene screening in a cohort of 82 LQTS genotype-negative patients. Two more patients were carriers of either CALM1 or CALM2 mutations.[smw.ch] Suddenly, he was found to have a seizure-like activity in the ER.[jtd.amegroups.com]

  • Long QT Syndrome 10

    Interestingly an overlap between LQTS and true epileptic seizures is recognized in a small proportion of patients with long QT2.[rarediseases.org] This prompted candidate-gene screening in a cohort of 82 LQTS genotype-negative patients. Two more patients were carriers of either CALM1 or CALM2 mutations.[smw.ch] […] abnormalities, or when there is a family history of long QT syndrome or of an event that raises suspicion of long QT syndrome, such as sudden death, syncope, or ill-defined “seizure[mdedge.com]

  • Catecholaminergic Polymorphic Ventricular Tachycardia

    If the ventricular tachycardia persists longer, patients may then manifest a generalized seizure.[sads.org] RYR2, CASQ2, KCNJ2 , ANK2, CALM1, CALM2, TRDN, SCN5A* Other Panels that Include this Diagnosis Notes on Genes: Priority Genes: These genes include 70% of the mutations that[admerahealth.com] Some of the symptoms you may observe in your child include the following: Lightheadedness Dizziness Fainting Seizure Irregular, fast heartbeat Cardiac arrest CPVT can be genetic[intermountainhealthcare.org]

  • Long QT Syndrome 15

    Síntomas: Síncope Convulsiones MS Palpitaciones o dolor precordial Symptoms include: The presence of palpitations or children may describe as “chest pain” Recurrent syncope Seizures[slideplayer.es]

  • Catecholaminergic Polymorphic Ventricular Tachycardia Type 2

    An adolescent girl with a history of anxiety associated seizure-like episodes was ultimately diagnosed with catecholaminergic polymorphic ventricular tachycardia.[ncbi.nlm.nih.gov] […] that have been discovered and only represent a small percentage of CPVT cases are TRDN (encoding triadin) and CALM1 (encoding calmodulin). 5,6 Mutations in the CALM2 gene[doi.org] There were no additional reports of seizures, pregnancy loss, neonatal death, or sudden cardiac death in family members.[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    Fatigue Seizures Growth delay Copyright Nucleus Medical Media, Inc.[cancercarewny.com] 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] Which of the following GSD is most likely the cause of hypoglycemia and subsequent seizures ?[namrata.co]

  • Glycogen Storage Disease Type 9

    GSD IX can cause low levels of glucose in the blood (hypoglycemia or low blood sugar), which has the potential to lead to seizures.[agsdus.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] Seizures can occur. Postprandial hyperglycaemia. Fatigue and muscle cramps after exertion. Mild growth restriction in some cases.[patient.info]

  • Jervell-Lange-Nielsen Syndrome

    If untreated, the irregular heartbeats, called arrhythmias, can lead to fainting, seizures, or sudden death.[en.wikipedia.org] A malignant form of LQTS associated to recurrent cardiac arrest due to VF in infants is associated to mutations in CALM1 and CALM2 genes encoding calmodulin (Crotti et al.[itaca.edu.es] It was first described by Anton Jervell and Fred Lange-Nielsen in 1957. [2] Symptoms and signs [ edit ] The symptoms of this condition are: Congenital Deafness Syncope Seizures[en.wikipedia.org]

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