gerstmann-straussler-scheinker disease/seizures

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A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.

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Early onset epileptic encephalopathy with suppression-burst is one of the most severe epilepsy phenotypes in human patients. A significant proportion of cases have a genetic origin, and the most frequently mutated gene is KCNQ2, encoding Kv7.2, a voltage-dependent potassium channel

[Convulsions and encephalopathy as initial manifestations of cyanocobalamin deficiency, without hematologic changes].

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A case of deficiency of cobalamin coenzyme synthesis whose first manifestation was encephalopathy with seizures and no trace of megaloblastic anemia is presented. After a while, signs of posterior cord and polyneural disfunction were detected. We highlight the rareness of the case and the difficulty

Prolonged pentobarbital-induced coma for the treatment of severe seizures related to posterior reversible encephalopathy syndrome.

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In this report, we describe a case of posterior reversible encephalopathy syndrome in a female patient after deceased donor liver transplantation. She developed posterior reversible encephalopathy syndrome on postoperative day 3 and did not improve despite adjustments in immunosuppressive therapy.

[Encephalopathy, convulsions and hypopotassemia in theophylline poisoning: a case analysis].

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A 73-year-old man was admitted to our hospital after convulsive seizures preceded by encephalopathy lasting one week. He had a history of long-standing chronic obstructive pulmonary disease and analysis showed hypokalemia, respiratory alkalosis and toxic levels of theophylline. We discuss the

A Patient with Hashimoto's Encephalopathy Presenting with Convulsive Seizure Alone as the Initial Symptom.

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A 71-year-old Japanese woman with Sjögren syndrome, Hashimoto's disease and a 6-month history of cognitive impairment was admitted to our hospital because of consciousness disturbance and convulsion. Her convulsive seizure disappeared by intravenous administration of diazepam following

Reversible encephalopathy and seizures as a result of conventional vincristine administration.

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An 8-year-old child with acute lymphoblastic leukemia (ALL) developed seizures associated with bilateral lucencies on CT scan during standard induction therapy with vincristine and prednisone. Because of the progressive nature of her symptoms, a brain biopsy was performed and revealed neurotubular

[Subacute encephalopathy with epileptic seizures in a patient with chronic alcoholism (SESA syndrome)].

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Subacute encephalopathy with seizures in alcoholics (SESA syndrome) is a rare disease entity following chronic alcohol ingestion. It is quite distinct from alcohol withdrawal syndromes, such as delirium, withdrawal seizures or CNS complications of alcohol, such as Wernicke-Korsakow syndrome, central

Report of a 6-month-old Asian infant with early infantile epileptic encephalopathy whose seizures were eliminated by cannabidiol

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We observed that cannabidiol supplements were highly effective in treating an infant boy with drug-resistant early infantile epileptic encephalopathy, eliminating his intractable tonic seizures. The infant began suffering clusters of brief tonic seizures from birth at 39 weeks gestation. EEG showed

Recurrent partial seizures with ictal yawning as atypical presentation of Hashimoto's encephalopathy (steroid-responsive encephalopathy associated with autoimmune thyroiditis).

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Hashimoto's encephalopathy (HE), also known as steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT), is a rare condition whose pathogenesis is unknown, though autoimmune-mediated mechanisms are thought to be involved. The prevalent neurological manifestations of this

Pervasive seizures caused by hypoxic-ischemic encephalopathy: treatment with intravenous paraldehyde.

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Seizures are commonly associated with hypoxic-ischemic encephalopathy. Although the majority of cases are controlled with first- or second-line therapy, others develop pervasive seizures, requiring multiple anticonvulsants. To provide data on the incidence of seizures and response to anticonvulsant

Hashimoto's Encephalopathy and Seizure Disorders.

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Hashimoto's encephalopathy (HE) is a rare, clinically heterogeneous condition associated with positive thyroid autoantibodies. It is increasingly recognized as an important and treatable cause of autoimmune encephalopathy. Thyroid-associated antibodies such as thyroperoxidase (TPO) antibody,

Recooling for rebound seizures after rewarming in neonatal encephalopathy.

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Infants undergoing therapeutic hypothermia for hypoxic ischemic encephalopathy are at risk for rebound seizures during and after the rewarming phase. We report a term male infant who was cooled for hypoxic ischemic encephalopathy. He developed electrographic seizures for the first time during the

Recurrent encephalopathy and generalised seizures associated with relapses of thyrotoxicosis.

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Seizures or encephalopathy associated with thyrotoxicosis are very rare. A 30-year-old man with thyrotoxicosis and strongly positive thyroid antibodies presented with generalised seizures preceded by an encephalopathic illness of a few days duration. CSF protein was raised and EEG showed bilateral

Hashimoto's encephalopathy: documentation of mesial temporal seizure origin by ictal EEG.

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Hashimoto's encephalopathy is a chronic relapsing and remitting encephalopathy associated with antithyroid antibodies. Seizures are a frequent manifestation, but are not well characterized in the literature with respect to their onset. We describe a 48-year-old patient with recurrent encephalopathy

Seizure and Acute Vision Loss in a Filipino Lupus Patient: A Case of Posterior Reversible Encephalopathy Syndrome with Intraparenchymal Hemorrhage.

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Posterior reversible encephalopathy syndrome (PRES) is a rare and poorly understood neurologic condition that has been described in some patients with systemic lupus erythematosus (SLE). Intracerebral hemorrhage is a unique and atypical presentation of PRES and has been described only in a small

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