Create issue ticket

33 Possible Causes for Genetic Heterogeneity, Seizures May Improve with Age

  • Kohlschütter-Tönz Syndrome

    The other families, mostly presenting with additional atypical features, were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease[ncbi.nlm.nih.gov] Brief Report Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories[doi.org] Houlden, H ; view all (2013) Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity.[discovery.ucl.ac.uk]

  • Benign Adult Familial Myoclonic Epilepsy

    Seizures are usually provoked and are easy to control. Patients in this age group may often be misdiagnosed as having non-lesional partial epilepsy.[jnnp.bmj.com] Abstract Benign adult familial myoclonic epilepsy (BAFME) has been mapped to chromosome 8q24; however, genetic heterogeneity has been recently suggested.[ncbi.nlm.nih.gov] This observation would confirm that BAFME is a worldwide, genetically heterogeneous condition, probably with Japanese families linked to 8q24 and European families to 2p11.1[ncbi.nlm.nih.gov]

  • Cutis Laxa

    improve over time.[pcds.org.uk] Congenital cutis laxa is a rare, clinically and genetically heterogeneous group of inherited disorders.[ncbi.nlm.nih.gov] Abstract Autosomal recessive cutis laxa is a genetically heterogeneous condition. Its molecular basis is largely unknown.[ncbi.nlm.nih.gov]

  • Cutis Laxa, Autosomal Recessive

    improve over time.[pcds.org.uk] DOI: 10.2340/0001555576298301 Congenital cutis laxa (CCL) is a rare, genetically heterogeneous connective tissue disorder, manifested by loose, hanging skin, giving the appearance[medicaljournals.se] Etiology ARCL1 is genetically heterogeneous and, although the etiology remains unknown in the majority of cases, mutations have been identified in some patients in the FBLN5[orpha.net]

  • Epilepsy

    The patients of epilepsy may belong to any age group. Early diagnosis and proper management of the disease improves the outcome.[symptoma.com] Progressive myoclonic epilepsies (PME) are a clinically and genetically heterogeneous group of rare diseases characterized by myoclonic seizures, tonic-clonic seizures, and[ncbi.nlm.nih.gov] This observation along with our previous findings of hot water genetic loci at 10q21.3-q22.3 (OMIM: 613339) and 4q24-q28 (OMIM: 613340), indicates unanticipated genetic heterogeneity[ncbi.nlm.nih.gov]

  • Idiopathic Generalized Epilepsy

    Seizures are usually provoked and are easy to control. Patients in this age group may often be misdiagnosed as having non-lesional partial epilepsy.[jnnp.bmj.com] The lack of significant association evidence of single variants with disease in this two-stage approach emphasizes the high genetic heterogeneity of epilepsy disorders, suggests[ncbi.nlm.nih.gov] Genetic Heterogeneity of Idiopathic Generalized Epilepsy EIG1 has been mapped to chromosome 8q24.[diseaseinfosearch.org]

  • Temporal Lobe Epilepsy

    Such studies may have to be controlled for seizure and spike occurrence, as well as for other variables (such as subjects’ age, age at seizure onset, and duration of epilepsy[ajnr.org] Pagina 112 - JC (1998) Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am. J. Hum.[books.google.ro] Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy and may be associated with acquired central nervous system lesions or could be genetic.[ncbi.nlm.nih.gov]

  • Dilated Cardiomyopathy 1R

    Hypotonia may also delay sitting, crawling and walking. Muscle tone often improves with age and with physical therapy.[1p36dsa.org] It is a heterogenous genetic disease: mutations in more than 20 different genes have been shown to cause familial DCM.[link.springer.com] Seizure disorder: Individuals with 1p36 Deletion Syndrome may have different types of seizures. Most seizure disorders can be controlled with medication.[1p36dsa.org]

  • Juvenile Absence Epilepsy

    The learning problems may improve after treatment is started. Who gets it? 1 in 50 (or 2%) of people with epilepsy have JAE.[epilepsy.com] Página 112 - JC (1998) Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am. J. Hum.[books.google.es] heterogeneous.[onlinelibrary.wiley.com]

  • Rett Syndrome

    Seizures may begin in this stage and generally don't occur before the age of 2. Stage IV: late motor deterioration.[mayoclinic.org] These new cases give additional support to the genetic heterogeneity in RTT and help to delineate the clinical spectrum of the FOXG1-related phenotypes.[ncbi.nlm.nih.gov] Moreover, some of the phenotypic variability observed in RS has been confirmed to result from genetic heterogeneity.[jmg.bmj.com]

Further symptoms

Similar symptoms