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4,673 Possible Causes for Genetic Heterogeneity, Jerk-Locked Premyoclonus Spikes

  • Benign Adult Familial Myoclonic Epilepsy

    […] cortical spikes detected by the jerk-locked back-averaging) ( Ikeda et al., 1990 ).[academic.oup.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]

  • 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] premyoclonus spikes Hand tremor Neuronal loss in central nervous system Cutaneous photosensitivity Hyperreflexia Heterogeneous Weight loss Dystonia Splenomegaly Thrombocytopenia[mendelian.co]

  • 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] Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.[pesquisa.bvsalud.org]

    Missing: Jerk-Locked Premyoclonus Spikes
  • Generalized Epilepsy with Febrile Seizures Plus

    This locus is the second GEFS locus to be reported, which suggests that this syndrome is genetically heterogeneous.[ncbi.nlm.nih.gov] Generalized epilepsy with febrile seizures plus (GEFS ) is an inherited epileptic syndrome with a marked clinical and genetic heterogeneity.[ncbi.nlm.nih.gov] Generalized epilepsy with febrile seizures plus (GEFS ; MIM#604233) is a familial epilepsy syndrome characterized by phenotypic and genetic heterogeneity.[ncbi.nlm.nih.gov]

    Missing: Jerk-Locked Premyoclonus Spikes
  • Limb-Girdle Muscular Dystrophy Type 1H

    Our findings further expand the clinical and genetic heterogeneity of LGMDs.[moh-it.pure.elsevier.com] Abstract : The limb-girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of neuromuscular disorders with a selective or predominant involvement of shoulder[hal.archives-ouvertes.fr] […] and genetically heterogeneous group of myogenic disorders with a limb-girdle distribution of weakness.[scinapse.io]

    Missing: Jerk-Locked Premyoclonus Spikes
  • Kallmann Syndrome

    This may represent a spurious association or genetic heterogeneity vis-a-vis the reported linkage of KS to the steroid sulphatase gene on the X chromosome.[ncbi.nlm.nih.gov] Kallmann syndrome (KS) is a rare clinical and genetic heterogeneity disease, which is familial or sporadic.[ncbi.nlm.nih.gov] Kallmann syndrome characterised by hypogonadotropic hypogonadism (HH) and anosmia is genetically heterogeneous with X-linked, autosomal dominant and autosomal recessive forms[ncbi.nlm.nih.gov]

    Missing: Jerk-Locked Premyoclonus Spikes
  • Hereditary Spastic Paraplegia

    HSP is a clinically and genetically heterogeneous neurodegenerative disorder characterized by degeneration of the corticospinal tract motor neurons and resulting in progressive[ncbi.nlm.nih.gov] The clinical variability observed in HSP is supported by the large underlying genetic heterogeneity.[ncbi.nlm.nih.gov] Our data confirm the genetic heterogeneity of childhood-onset pure HSP, with SPG4/SPAST and SPG3A/ATL1 being the most frequent forms.[ncbi.nlm.nih.gov]

    Missing: Jerk-Locked Premyoclonus Spikes
  • Pure Hereditary Spastic Paraplegia

    The condition is genetically heterogeneous, and loci have been mapped at chromosomes 2p, 8q, 14q, and 15q.[ncbi.nlm.nih.gov] Our data confirm the genetic heterogeneity of childhood-onset pure HSP, with SPG4/SPAST and SPG3A/ATL1 being the most frequent forms.[ncbi.nlm.nih.gov] Abstract Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs.[ncbi.nlm.nih.gov]

    Missing: Jerk-Locked Premyoclonus Spikes
  • Hereditary Sensory Neuropathy

    OBJECTIVE: To elucidate genetic heterogeneity in ulcero-mutilating neuropathy.[ncbi.nlm.nih.gov] This kindred provides further evidence of the clinical variability among kindreds with hereditary sensory neuropathy, suggesting genetic heterogeneity.[ncbi.nlm.nih.gov] DISCUSSION: Molecular genetic studies have demonstrated genetic heterogeneity between the hereditary sensory neuropathy type 1 subtypes.[ncbi.nlm.nih.gov]

    Missing: Jerk-Locked Premyoclonus Spikes
  • Wolcott-Rallison Syndrome

    The patient with no EIF2AK3 involvement did not have any of the other variable clinical manifestations associated with WRS, which supports the idea that the genetic heterogeneity[ncbi.nlm.nih.gov] […] suggestion of genetic heterogeneity .[indiana.pure.elsevier.com] Wolcott_Rallison syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes. 2004 ; 53: 1876 – 83.[doi.org]

    Missing: Jerk-Locked Premyoclonus Spikes

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