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19 Possible Causes for Hyperventilation, Mutation in the WWOX Gene

  • Early Infantile Epileptic Encephalopathy Type 2

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] Other features included hand stereotypies, hyperventilation when upset, and small feet. Weaving et al. (2004) considered a diagnosis of atypical Rett syndrome.[genome.jp] PRTS MRXS1 309510 Genetic Test Registry Pitt-Hopkins Syndrome Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation[ukgtn.nhs.uk]

  • Reye Syndrome

    A few rare cases have been associated with mutations in the steroidogenic factor 1 ( SF1 or NR5A1 ) gene, the protein Wnt-4 ( WNT4 ) gene, and the CBX2, GATA4 and WWOX genes[rarediseases.org] […] for a rare disease Reye syndrome Disease definition A rare, systemic disease characterized by persistent vomiting with confusion, lethargy, disorientation, hyperreflexia, hyperventilation[orpha.net] Signs of metabolic derangement include elevated serum amino acid levels, acid-base disturbances (usually with hyperventilation, mixed respiratory alkalosis–metabolic acidosis[merckmanuals.com]

  • Familial Infantile Myoclonic Epilepsy

    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014;137:411–9.[genomemedicine.biomedcentral.com] […] infantile epileptic encephalopathy Pitt-Hopkins syndrome Synonyms: Pitt Hopkins syndrome, Intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation[rarediseases.info.nih.gov] PRTS MRXS1 309510 Genetic Test Registry Pitt-Hopkins Syndrome Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation[ukgtn.nhs.uk]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] PRTS MRXS1 309510 Genetic Test Registry Pitt-Hopkins Syndrome Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation[ukgtn.nhs.uk] It is worth noting also that, at variance with classical RTT, the patient had no history of hand stereotypy, hyperventilation, or teeth grinding.[jmg.bmj.com]

  • Autosomal Recessive Spinocerebellar Ataxia 8

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] The frequency of the generalized discharges was exaggerated by hyperventilation. The background was 9–10 Hz and no photosensitivity was demonstrated.[academic.oup.com] […] ophthalmoplegia, central nystagmus with rotary and horizontal components Course - Relapsing-remitting course, rarely progressively fatal Respiratory - Characterized by unexplained hyperventilation[emedicine.medscape.com]

  • Spinocerebellar Ataxia Type 12

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] […] ophthalmoplegia, central nystagmus with rotary and horizontal components Course - Relapsing-remitting course, rarely progressively fatal Respiratory - Characterized by unexplained hyperventilation[emedicine.medscape.com] Performing exome sequencing in the younger sister, the authors identified 16 genes with functionally relevant homozygous mutation and focused on the WWOX gene, coding for[epilepsygenetics.net]

  • Ataxia

    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[ncbi.nlm.nih.gov] Manto, Effects of hyperventilation on fast goal‐directed limb movements in spinocerebellar ataxia type 6, European Journal of Neurology, 8, 5, (401-406), (2001). D.[doi.org] […] ophthalmoplegia, central nystagmus with rotary and horizontal components Course - Relapsing-remitting course, rarely progressively fatal Respiratory - Characterized by unexplained hyperventilation[emedicine.medscape.com]

  • Spinocerebellar Ataxia Type 13

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] EEG is abnormal, hyperventilation induce a repeated fits 5 6 HZ θ activities. Head MRI did not see anomaly, no cerebellar or brainstem atrophy.[oatext.com] […] ophthalmoplegia, central nystagmus with rotary and horizontal components Course - Relapsing-remitting course, rarely progressively fatal Respiratory - Characterized by unexplained hyperventilation[emedicine.com]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] […] such as Gillespie syndrome include 1 or 2 additional features (eg, mental retardation, partial aniridia), while other conditions such as Joubert syndrome (ie, hypotonia, hyperventilation[canadianataxiaconference.com] The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014;137:411–9.[link.springer.com]

  • Spinocerebellar Ataxia Type 10

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] Respiratory alkalosis- stimulates respiratory center causing hyperventilation 2.[studystack.com] Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schule R, Schols L, Aldaz CM, Koenig M タイトル The tumour suppressor gene[genome.jp]

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