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71 Possible Causes for Frontal Focal Spikes, Genetic Heterogeneity

  • Benign Adult Familial Myoclonic Epilepsy

    […] childhood epilepsy with centrotemporal spike -childhood epilepsy with occipital paroxysms Generalized epilepsies & synd.[enotes.tripod.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]

  • Epilepsy

    The diagnosis of frontal lobe epilepsy (generalized tonic-clonic seizures secondary to focal impaired awareness seizures and myoclonus) was made.[ncbi.nlm.nih.gov] 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] Neuroimaging studies were unremarkable and electroencephalograms showed high voltage 200-400uV, 2-2.5 Hz generalized spike-and-waves and polyspikes with alternating frontal[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]

  • 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

    Interictal and ictal EEG is characterized by focal generalized spike-wave discharge occasionally prominent in the frontal region.[1pdf.net] 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] Focal discharges were more frequent in the frontal regions 19,25. They may be isolated spikes, sharp waves, slow waves, or spike-and-wave complexes 7,16,21.[scielo.br]

  • Kohlschütter-Tönz Syndrome

    […] abnormal, focal discharges over the temporal lobe, and multifocial epileptiform activity. [9] Several patients showed a loss of normal background activity. [2] Treatments[en.wikipedia.org] 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]

  • Neonatal Seizures

    We thus conclude that benign familial neonatal seizures is a genetically heterogeneous type of epilepsy.[ncbi.nlm.nih.gov] Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q.[ncbi.nlm.nih.gov] Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity. Ann Neurol. 1991; 29 :469–73. [ PubMed : 1859177 ] 85.[ncbi.nlm.nih.gov]

  • 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]

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