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92 Possible Causes for Episodes Last about 1.5 Hours, Interictal Downbeat Nystagmus, Mutation in the SYNE1 Gene

  • Autosomal Recessive Spinocerebellar Ataxia 8

    According to Baloh and others (1997), EA2 is characterized by a progressive ataxia with interictal rebound nystagmus evoked by gaze, as well as downbeating nystagmus.[tchain.com] Mutations in the SYNE1 gene cause ARCA1 .[ghr.nlm.nih.gov] Gene Human Gene Mutation Database (HGMD) SYNE1 SNPedia medical, phenotypic, and genealogical associations of SNPs for SYNE1 SNP Genotyping and Copy Number Assay Products[genecards.org]

    Missing: Episodes Last about 1.5 Hours
  • Familial Episodic Pain Syndrome Type 1

    Most patients also show various interictal nystagmus, such as gaze-evoked nystagmus (GEN), rebound nystagmus, or primary position downbeat nystagmus.[e-jmd.org]

    Missing: Mutation in the SYNE1 Gene
  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    . ; EA2 with interictal nystagmus , is long-lasting (hours) associated with attacks of vertigo, diffuse weakness, slurred speech, dystonia, seizures, truncal and limb ataxia[neuroweb.us] […] cause of autosomal recessive cerebellar ataxia. [3] Cause [ edit ] ARCA1 is caused by the mutated SYNE1 gene that is vital for the synthesis of Syne-1 protein in the Purkinje[en.wikipedia.org] SYNE1 is a large gene of 147 exons and this makes mutation screening by traditional methods expensive and complicated.[wjgnet.com]

    Missing: Episodes Last about 1.5 Hours
  • Early-Onset Cerebellar Ataxia

    . ; EA2 with interictal nystagmus , is long-lasting (hours) associated with attacks of vertigo, diffuse weakness, slurred speech, dystonia, seizures, truncal and limb ataxia[neuroweb.us] […] in SYNE1 gene in a Saudi family, Journal of the Neurological Sciences, 372, (97), (2017).[doi.org] […] and downbeat nystagmus, often associated with nausea, vomiting and headache (migraine, often hemiplegic migraine).[neuroweb.us]

    Missing: Episodes Last about 1.5 Hours
  • Muscular Dystrophy

    The second recessive mutation in SYNE1 (c.2881C T; p.Arg961Trp) was found in the SAP motif, which was predicted to be involved in chromosomal organization.[ncbi.nlm.nih.gov] Zhang et al. (2007) identified mutations in the SYNE1 and SYNE2 genes in patients with EDMD4 and EDMD5.[web.archive.org] New mutations have been found in the synaptic nuclear envelope protein 1 ( SYNE1 ) gene and in the synaptic nuclear envelope protein 2 ( SYNE2 ) gene in a few families, also[emedicine.medscape.com]

    Missing: Episodes Last about 1.5 Hours Interictal Downbeat Nystagmus
  • Autosomal Recessive Spinocerebellar Ataxia

    Mutations in the SYNE1 gene cause ARCA1 .[ghr.nlm.nih.gov] […] cause of autosomal recessive cerebellar ataxia. [3] Cause [ edit ] ARCA1 is caused by the mutated SYNE1 gene that is vital for the synthesis of Syne-1 protein in the Purkinje[en.wikipedia.org] SYNE1 is a large gene of 147 exons and this makes mutation screening by traditional methods expensive and complicated.[wjgnet.com]

    Missing: Episodes Last about 1.5 Hours Interictal Downbeat Nystagmus
  • Emery-Dreifuss Muscular Dystrophy

    In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery-Dreifuss[ncbi.nlm.nih.gov] […] of SYNE1 on chromosome 6q25.2.[informatics.jax.org] Fanin M, Savarese M, Nascimbeni AC, et al. (2015) Dominant muscular dystrophy with a novel SYNE1 gene mutation. Muscle & Nerve 51 (1): 145–147.[els.net]

    Missing: Episodes Last about 1.5 Hours Interictal Downbeat Nystagmus
  • Limb-Girdle Muscular Dystrophy Type 1E

    This form of the CMD is caused by mutations of the SYNE1 gene. ADDITIONAL RARE FORMS OF CMDS WITH OR WITHOUT A KNOWN GENETIC DEFECT.[rarediseases.org]

    Missing: Episodes Last about 1.5 Hours Interictal Downbeat Nystagmus
  • Emery-Dreifuss Muscular Dystrophy Type 2

    Zhang et al. (2007) identified mutations in the SYNE1 and SYNE2 genes in patients with EDMD4 and EDMD5.[genome.jp] Dominant muscular dystrophy with a novel SYNE1 gene mutation. Muscle Nerve. 2015; 51(1):145-7.[invitae.com] Fanin M, Savarese M, Nascimbeni AC, et al. (2015) Dominant muscular dystrophy with a novel SYNE1 gene mutation. Muscle & Nerve 51 (1): 145–147.[els.net]

    Missing: Episodes Last about 1.5 Hours Interictal Downbeat Nystagmus
  • Emery-Dreifuss Muscular Dystrophy Type 1

    7-8 weeks price : contact lab NGS of 5 genes: EMD, FHL1, LMNA, SYNE1, SYNE2. method(s) : Mutation Scanning of Entire Coding Region Sequencing, Next Gen Sistemas Genomicos,[genetests.org] Zhang et al. (2007) identified mutations in the SYNE1 and SYNE2 genes in patients with EDMD4 and EDMD5.[genome.jp] New mutations have been found in the synaptic nuclear envelope protein 1 ( SYNE1 ) gene and in the synaptic nuclear envelope protein 2 ( SYNE2 ) gene in a few families, also[emedicine.medscape.com]

    Missing: Episodes Last about 1.5 Hours Interictal Downbeat Nystagmus