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1,333 Possible Causes for Mutation in the SCN1A Gene, Small Hippocampi, Visual Hallucination

  • Temporal Lobe Epilepsy

    For example, most infants with Dravet syndrome, a type of epilepsy associated with seizures that begin before the age of one year, carry a mutation in the SCN1A gene that[ninds.nih.gov] The control of water movement is achieved through a family of small integral membrane channel proteins called aquaporins (AQPs).[ncbi.nlm.nih.gov] In a study published this week in Medical Humanities, the authors feel that temporal lobe epilepsy is a more likely explanation as it can produce complex visual hallucinations[medicalnewstoday.com]

  • Early Infantile Epileptic Encephalopathy Type 6

    Abstract BACKGROUND: Mutations in the gene encoding the alpha subunit of the voltage-gated sodium channel SCN1A are associated with several epilepsy syndromes.[ncbi.nlm.nih.gov] (E) Coronal views of the hippocampi at 2 months show bilateral small hippocampi with left hippocampal malrotation.[neurology.org] In Idiopathic Childhood Epilepsy of Gastaut seizures are brief, diurnal and frequent, consisting generally of elementary visual hallucinations and/or ictal blindness.[psiquiatriainfantil.com.br]

  • Panayiotopoulos Syndrome

    Mutations in the SCN1A gene have been associated with the development of this syndrome.[ncbi.nlm.nih.gov] Complex visual hallucinations, visual illusions and other symptoms resulting from more anterior ictal spreading rarely occur from the start.[en.wikipedia.org] .  May experience febrile myoclonus  Associated with mutations of the SCN1A sodium channel gene. 17.  Previously called early-benign childhood seizures with occipital spikes[slideshare.net]

    Missing: Small Hippocampi
  • Epilepsy

    De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.[doi.org] , such as blindness, visual hallucinations, illusions, and distorted scenery like macropsia, where everything surrounding you seems larger than normal.[verywell.com] The cortex is the outer layer of the brain, and seizure symptoms can vary from unusual sensations to visual hallucinations, emotional changes, or convulsions.[everydayhealth.com]

    Missing: Small Hippocampi
  • Epileptic Aura

    Interestingly, mutations in all three FHM genes [CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3)] can also cause epileptic seizures.[ncbi.nlm.nih.gov] The elementary visual hallucinations detailed cannot be anything else but visual seizures.[jnnp.bmj.com] Case 1, a 14-year-old boy with weekly episodes of visual hallucinations beginning at age 8, first complained of concentric spherical rings of red and yellow moving from left[pediatricneurologybriefs.com]

    Missing: Small Hippocampi
  • Basilar Migraine

    Mutations in three genes have been described in FHM patients: CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3).[ncbi.nlm.nih.gov] Symptoms may include scintillating scotomata, formed stereotyped visual hallucinations in a single visual field or bilaterally, micropsia, and tunnel vision. [80] Other auras[emedicine.medscape.com] […] castles (teichopsia), wavy images or hallucinations.[healthcommunities.com]

    Missing: Small Hippocampi
  • Focal Onset Impaired Awareness Seizure

    […] region of the brain, often the temporal lobes or structures found there such as the hippocampi.[en.wikipedia.org] BACKGROUND: A complex partial seizure can cause a variety of visual system signs and symptoms, including visual hallucinations, dilated pupils, and changes in vision.[ncbi.nlm.nih.gov] […] generalized seizure is one that involves both sides of the brain from the onset). [6] Focal aware seizure [ edit ] Focal aware seizures are seizures which affect only a small[en.wikipedia.org]

    Missing: Mutation in the SCN1A Gene
  • Generalized Epilepsy with Febrile Seizures Plus

    Here, we provide the first report of clinical presentation and mutational analysis of SCN1A gene in 36 Malaysian GEFS patients.[ncbi.nlm.nih.gov] The syndrome is usually associated with visual hallucinations.[epilepsywarriors.org] It was associated with mutations in the neuronal voltage-gated sodium channel subunit gene (SCN1A, SCN2A, SCN1B) and ligand-gated gamma aminobutyric acid receptors genes ([ncbi.nlm.nih.gov]

    Missing: Small Hippocampi
  • Multiple Sclerosis

    Nav1. 1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J.[doi.org]

    Missing: Small Hippocampi
  • Lafora Disease

    […] panel: ATP1A2, CACNA1A, KCNK18, NOTCH3, PDGFRB, SCN1A, TREX1 Miller Syndrome Sanger sequencing of the DHODH gene Miotubular myopathy, autosomal dominant Sanger Sequencing[pentacorelab.hu] Jump to navigation Jump to search Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual[wikidata.org] It is clinically characterized by insidious of progressive neurological features including seizures, action myoclonus, visual hallucination, ataxia and dementia.[ncbi.nlm.nih.gov]

    Missing: Small Hippocampi

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