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523 Possible Causes for Global Hypotonia, Type 2 EEG Response Parietooccipital Spikes Followed by Biphasic Slow-Waves

  • West Syndrome

    A 5 year-old boy exhibited global hypotonia with generalized muscle weakness from birth.[ncbi.nlm.nih.gov] His MRI also picked up that his brain wasn't quite fully formed at the front and sides and this had resulted in him having global developmental delay and hypotonia (floppy[netmums.com]

  • Generalized Clonic or Tonic-Clonic Seizures

    […] developmental delay Generalized hypotonia SOURCES: ORPHANET OMIM ICD10 NCIT MONDO More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1 Top 5 symptoms//phenotypes associated[mendelian.co] […] seizures Pica Epileptic spasms EEG with irregular generalized spike and wave complexes Enhancement of the C-reflex Dysphagia Urinary bladder sphincter dysfunction Severe global[mendelian.co] Tetraplegia Neurodegeneration Spastic tetraplegia Epileptic encephalopathy Intellectual disability, profound Status epilepticus Hypoplasia of the corpus callosum Muscular hypotonia[mendelian.co]

  • Encephalopathy

    We describe a multiplex consanguineous family in which four affected members presented with severe neonatal hypotonia, profound global developmental delay, progressive microcephaly[ncbi.nlm.nih.gov] Global developmental delay can be evident by this age or the patients may present with encephalopathy or hypotonia. 2 , 7 , 8 Classification by age of onset into an early[pediatrics.aappublications.org]

  • Epilepsy

    Five Things Physicians and Patients Should Question August 15, 2018 1 Avoid routine testing for antiepileptic drug (AED) levels in people with epilepsy. AED level testing should not be routinely ordered when seizures are well controlled, and no adverse effect is suspected. The reference ranges should not be used as a[…][choosingwisely.org]

    Missing: Global Hypotonia
  • Benign Adult Familial Myoclonic Epilepsy

    Abstract Benign adult familial myoclonic epilepsy (BAFME) is a non-progressive monogenic epilepsy syndrome. So far, the structural and functional brain reorganizations in BAFME remain uncharacterized. This study aims to investigate gray matter atrophy and related functional connectivity alterations in patients with[…][ncbi.nlm.nih.gov]

    Missing: Global Hypotonia
  • Juvenile Myoclonic Epilepsy

    Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be identified. We report that an Ala322Asp mutation in GABRA1, encoding the alpha1 subunit of the gamma-aminobutyric acid receptor subtype[…][ncbi.nlm.nih.gov]

    Missing: Global Hypotonia
  • Idiopathic Generalized Epilepsy

    The full text of this article hosted at iucr.org is unavailable due to technical difficulties. First published: 18 November 2005 Cited by: 5 Address correspondence and reprint requests to Dr. Douglas R. Nordli, Jr., at Children's Memorial Hospital, Northwestern University, Feinberg School of Medicine, 2300 Children's[…][doi.org]

    Missing: Global Hypotonia
  • Myoclonic-Astatic Epilepsy

    The full text of this article hosted at iucr.org is unavailable due to technical difficulties. First published: 16 August 2010 Cited by: 2 Dr Eric H Kossoff at Suite 2158 – 200 North Wolfe Street, David M Rubenstein Child Health Building, The John M Freeman Pediatric Epilepsy Center, The Johns Hopkins Hospital, Baltimore,[…][doi.org]

    Missing: Global Hypotonia
  • Organic Brain Syndrome

    This paper describes a rare case of organic brain syndrome with psychosis and clinically transverse myelopathy, as initial manifestations of systemic lupus erythematosus in an elderly woman. The identification and evaluation of antibodies to ribosome P in the serum and cerebrospinal fluid may be of help in such cases[…][ncbi.nlm.nih.gov]

    Missing: Global Hypotonia
  • Juvenile Absence Epilepsy

    We describe a 68-year-old woman who had typical absence seizures since 14 years of age. The absences were refractory to treatment and persisted into adulthood, with no seizure-free periods until seizure control at 59 years of age. After six years of being seizure-free, she presented with an episode[…][ncbi.nlm.nih.gov]

    Missing: Global Hypotonia

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