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18 Possible Causes for Genetic Heterogeneity, Paroxysmal Activity - Spikes Central

  • Benign Adult Familial Myoclonic Epilepsy

    Between these bursts are inserted periods of variable duration without obvious paroxysmal discharges but with θ–wave activity of variable amplitude involving both central[neupsykey.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]

  • Juvenile Myoclonic Epilepsy

    BACKGROUND: Juvenile myoclonic epilepsy (JME), is an early-onset inherited generalized epilepsy which displays genetic heterogeneity, with at least 10 known loci.[ncbi.nlm.nih.gov] Abstract Juvenile myoclonic epilepsy (JME) is a clinically and genetically heterogenous, generalized epilepsy syndrome usually starting in adolescence.[ncbi.nlm.nih.gov] heterogeneity is suspected.[pmj.bmj.com]

  • Idiopathic Generalized Epilepsy

    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] Molecular genetic analyses have led to important breakthroughs in the identification of candidate genes and loci; genetic heterogeneity is common.[epilepsy.com] Genetic Heterogeneity of Idiopathic Generalized Epilepsy EIG1 has been mapped to chromosome 8q24.[diseaseinfosearch.org]

  • Epilepsy

    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] Due to clinical and genetic heterogeneity of PMEs, it is difficult to decide which genes are affected.[ncbi.nlm.nih.gov]

  • Myoclonic-Astatic Epilepsy

    […] influences and clues for genetic heterogeneity, and discuss strategies that may be helpful in elucidating the etiology of MAE in light of current genetic techniques.[ncbi.nlm.nih.gov] Doose Syndrome is likely to be genetically heterogeneous and – in contrast to Dravet Syndrome – caused by various different genes.[epilepsygenetics.net] Neuronal ceroid lipofuscinoses (NCLFs) include clinically and genetically heterogeneous storage disorders, which can be found in very young patients, but also in adults.[epilepsyontario.org]

  • Generalized Clonic or Tonic-Clonic Seizures

    Genetic Heterogeneity of Progressive Myoclonic EpilepsyProgressive myoclonic epilepsy refers to a clinically and genetically heterogeneous group of neurodegenerative disorders[mendelian.co] Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 ( OMIM ), caused by mutation in the CEP57 gene ( OMIM ) on chromosome 11q21, and MVA3 ( OMIM ),[mendelian.co] […] description and a discussion of genetic heterogeneity of early infantile epileptic encephalopathy, see EIEE1 ( OMIM ).[mendelian.co]

  • West Syndrome

    West syndrome is genetically heterogeneous, and its genetic causes have not been fully elucidated.[ncbi.nlm.nih.gov] This disorder is genetically heterogeneous, with up to a fifth of cases resulting from mutations in the CDKL5 gene.[genedx.com] Identification of genetic associations of IS, a rapidly developing area, suggests IS is a genetically heterogeneous condition involving abnormalities in key developmental[bmcpediatr.biomedcentral.com]

  • Juvenile Absence Epilepsy

    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] Although JME cases are genetically heterogeneous, patients within those various groups are not clinically distinguished by the current diagnostic methods 11.[scielo.br]

  • Uremic Encephalopathy

    heterogeneous disease that may exist in both autosomal dominant and recessive forms.[jnnp.bmj.com] 2 Cambridge screening protocol for von Hippel-Lindau disease in affected patients and at risk relatives 1 POLYCYSTIC KIDNEY DISEASE Polycystic kidney disease (PCKD) is a genetically[jnnp.bmj.com]

  • Early Infantile Epileptic Encephalopathy Type 3

    For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 ({308350}).[diseaseinfosearch.org] This syndrome is likely to be the earliest age-related specific epileptic reaction of the developing brain to heterogeneous insults Neonatal epileptic seizures - Genetic testing[brainscape.com]

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