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12 Possible Causes for Central Focal Spikes, Global Hypotonia

  • 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]

  • Neonatal Seizures

    At that time, neurological examination showed severe global hypotonia with consequent developmental delay; however no focal deficits were detected.[scielo.br]

  • Ohtahara Syndrome

    In infancy, the EEG background was normal (1), showed diffuse (3) or focal slowing that was temporal (1) and in the left hemisphere (1), and showed focal (central, temporal[dx.doi.org] Results: In all 6 patients, global developmental delay and hypotonia were present from infancy, with onset of chorea around age 3-4 years.[mdsabstracts.org] Results All patients had global delay, central hypotonia and MD noted in early life (see online supplementary table 1, patient synopsis, SI).[jnnp.bmj.com]

  • Kabuki Syndrome

    Interictal electroencephalogram revealed focal paroxysmal epileptiform discharges (in frontal, central, and parietal regions) in three patients, diffuse high-voltage spike-and-waves[ncbi.nlm.nih.gov] Almost all patients have mild to moderate intellectual deficit and may present with neurological manifestations such as hypotonia or seizures.[orpha.net] In contrast, focal seizures were not controlled in the early period of antiepileptic therapy.[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy 14

    EEG at 1-year-old showed slow background and spikes at right central area during sleep.[bmcmedgenet.biomedcentral.com] Additional neurologic features include hypotonia, microcephaly developing by age 12 months, strabismus, profound global developmental delay, and additional movement disorders[ncbi.nlm.nih.gov] […] seizure, secondary generalized seizure, status epilepticus Can’t control head at 1-year-old Severe ID Diffuse slow waves in the background, spike at right central area during[bmcmedgenet.biomedcentral.com]

  • Idiopathic Hemiconvulsion - Hemiplegia Syndrome

    Benign focal epilepsy in infants with central and vertex spikes and waves during sleep Benign focal epilepsy in infants with central and vertex spikes and waves during sleep[intechopen.com] […] developmental delay, hypotonia, progressive microcephaly EEG findings: Burst-suppression pattern Myoclonic jerks do not correlate with EEG changes Management considerations[emilytam.com] […] frontal or midline spikes, benign focal epilepsy in infants with central and vertex spikes and waves during sleep and Benign childhood seizures with affective symptoms are[intechopen.com]

  • Early Infantile Epileptic Encephalopathy 18

    EEG at 1-year-old showed slow background and spikes at right central area during sleep.[bmcmedgenet.biomedcentral.com] - Between 80% and 100% cases Global developmental delay Common - Between 50% and 80% cases Generalized hypotonia Common - Between 50% and 80% cases Hypsarrhythmia Common -[mendelian.co] […] seizure, secondary generalized seizure, status epilepticus Can’t control head at 1-year-old Severe ID Diffuse slow waves in the background, spike at right central area during[bmcmedgenet.biomedcentral.com]

  • Early Infantile Epileptic Encephalopathy 28

    EEG at 1-year-old showed slow background and spikes at right central area during sleep.[bmcmedgenet.biomedcentral.com] Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Generalized hypotonia SOURCES: UMLS MONDO OMIM More info about[mendelian.co] […] seizure, secondary generalized seizure, status epilepticus Can’t control head at 1-year-old Severe ID Diffuse slow waves in the background, spike at right central area during[bmcmedgenet.biomedcentral.com]

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