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36 Possible Causes for Global Hypotonia, Temporal Focal Spikes

  • West Syndrome

    Brain MRI revealed no abnormal findings although interictal EEG demonstrated left centro-parieto-temporal localized spike foci.[ncbi.nlm.nih.gov] 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]

  • Benign Familial Infantile Epilepsy

    […] epilepsies appearing later in life such as early-onset benign occipital seizure susceptibility syndrome (EBOSS), or benign epilepsy of childhood with centro-temporal spikes[ncbi.nlm.nih.gov] […] developmental delay, hypotonia, progressive microcephaly EEG findings: Burst-suppression pattern Myoclonic jerks do not correlate with EEG changes Management considerations[emilytam.com] spikes, electroencephalography Resumen Introducción: La epilepsia benigna de la infancia con puntas centro-temporales es el síndrome epiléptico focal más común en pediatría[revistamedicina.net]

  • Familial Recurrent Peripheral Facial Palsy

    […] lobe epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile seizures Benign hereditary chorea Benign infantile focal epilepsy with midline spikes and[se-atlas.de] […] developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome Global developmental delay-osteopenia-ectodermal defect syndrome Global[orpha.net] […] epilepsy Benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Panayiotopoulos type Benign familial infantile epilepsy Benign familial mesial temporal[se-atlas.de]

  • 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]

  • Panayiotopoulos Syndrome

    RESULTS: The patterns of spatial and temporal dynamics of the interictal spikes were not stereotypical for any brain area, including the occipital lobe.[ncbi.nlm.nih.gov] […] developmental delay, hypotonia, progressive microcephaly EEG findings: Burst-suppression pattern Myoclonic jerks do not correlate with EEG changes Management considerations[emilytam.com] On the other hand, focal centro-temporal spikes were noted in two probands with Panayiotopoulos and Gastaut syndromes.[academic.oup.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2R

    […] developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome Global developmental delay-osteopenia-ectodermal defect syndrome Global[orpha.net] […] lobe epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile seizures Benign hereditary chorea Benign infantile focal epilepsy with midline spikes and[se-atlas.de] […] developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome Globodontia Globoid cell leukodystrophy Glomangiomatosis Glomerular disease[orpha.net]

  • Optic Atrophy-Intellectual Disability Syndrome

    […] lobe epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile seizures Benign hereditary chorea Benign infantile focal epilepsy with midline spikes and[se-atlas.de] As of 2017, over 25 individuals with BBSOAS have been identified, globally.[bcm.edu] […] epilepsy Benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Panayiotopoulos type Benign familial infantile epilepsy Benign familial mesial temporal[se-atlas.de]

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