tuberous sclerosis/kalij

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Impaired astrocytic gap junction coupling and potassium buffering in a mouse model of tuberous sclerosis complex.

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Abnormalities in astrocytes occur in the brains of patients with Tuberous Sclerosis Complex (TSC) and may contribute to the pathogenesis of neurological dysfunction in this disease. Here, we report that knock-out mice with Tsc1 gene inactivation in glia (Tsc1(GFAP)CKO mice) exhibit decreased

Epileptogenesis and reduced inward rectifier potassium current in tuberous sclerosis complex-1-deficient astrocytes.

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OBJECTIVE Individuals with tuberous sclerosis complex (TSC) frequently have intractable epilepsy. To gain insights into mechanisms of epileptogenesis in TSC, we previously developed a mouse model of TSC with conditional inactivation of the Tsc1 gene in glia (Tsc1(GFAP)CKO mice). These mice develop

Successful treatment of adenoma sebaceum with the potassium titanyl phosphate laser.

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Abnormal intracellular granules of the renal papilla in a child with potassium depletion (Bartter's syndrome) and renal tuberous sclerosis.

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Tuberous sclerosis and epilepsy: role of astrocytes.

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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is among the most common genetic causes of epilepsy. Focal brain lesions in TSC, known as cortical tubers, have been implicated in promoting epileptogenesis in TSC. Histological, cellular, and molecular abnormalities in

[Tuberous sclerosis and organic bipolar disorder in a 15-year-old adolescent].

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We present the case of a 15-year-old girl with tuberous sclerosis who developed rapid cycling bipolar disorder under treatment with the anticonsulvant oxcarbazepine. Because of first occurrence of grand mal-seizures combined treatment with Valproate became necessary, but failed to prevent relapses

Diadenosine-Polyphosphate Analogue AppCH2ppA Suppresses Seizures by Enhancing Adenosine Signaling in the Cortex.

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Epilepsy is a multifactorial disorder associated with neuronal hyperexcitability that affects more than 1% of the human population. It has long been known that adenosine can reduce seizure generation in animal models of epilepsies. However, in addition to various side effects, the instability of

Incidental cardiac rhabdomyomas: a significant finding necessitating additional investigation at the time of autopsy.

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Cardiac rhabdomyomas are rare lesions forming part of the tuberous sclerosis complex that may be responsible for sudden death. As well as remaining clinically occult for variable periods of time, they may, along with other manifestations of tuberous sclerosis, be quite difficult to detect clinically

Effects of rapamycin on gene expression, morphology, and electrophysiological properties of rat hippocampal neurons.

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OBJECTIVE We assayed the effects of rapamycin, an immunomodulatory agent known to inhibit the activity of the mammalian target of rapamycin (mTOR) cascade, on candidate gene expression and single unit firing properties in cultured rat hippocampal neurons as a strategy to define the effects of

Disorders of hypopigmentation in children.

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The most common disorders of hypopigmentation in children are pityriasis alba, vitiligo, nevus depigmentosus, and tinea versicolor. Pityriasis alba usually presents as ill defined, scaly patches of hypomelanosis on the cheeks of children with an atopic diathesis. The face is also a favored site for

Polycystic kidney disease: etiology, pathogenesis, and treatment.

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Once viewed as hopelessly incurable disorders and the dustbin for careers in academic medicine, the polycystic kidney diseases have emerged as prime targets of pathophysiologic study and palliative and definitive treatment in the era of molecular medicine. Polycystic kidney disease (PKD) may be

Activation of mTORC1 in collecting ducts causes hyperkalemia.

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Mutation of TSC (encoding tuberous sclerosis complex protein) and activation of mammalian target of rapamycin (mTOR) have been implicated in the pathogenesis of several renal diseases, such as diabetic nephropathy and polycystic kidney disease. However, the role of mTOR in renal potassium excretion

Expression of astrocyte-related receptors in cortical dysplasia with intractable epilepsy.

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Epilepsy is one of the major neurologic diseases, and astrocytes play important roles in epileptogenesis. To investigate possible roles of astrocyte-related receptors in patients with intractable epilepsy associated with focal cortical dysplasia (FCD) and other conditions, we examined resected

The two-pore domain K+ channel TASK-1 is closely associated with brain barriers and meninges.

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Impairment of the blood-brain barrier (BBB), the blood-cerebrospinal fluid (CSF) barrier and brain-CSF barrier has been implicated in neuropathology of several brain disorders, such as amyotrophic lateral sclerosis, cerebral edema, multiple sclerosis, neural inflammation, ischemia and stroke.

GSK-3β at the crossroads in the signalling of heart preconditioning: implication of mTOR and Wnt pathways.

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OBJECTIVE Ischaemic preconditioning (IPC) protects the heart against prolonged lethal ischaemia through a signalling cascade involving Akt, glycogen synthase kinase-3β (GSK-3β), and mitochondrial ATP-sensitive potassium channels (mitoK(ATP)). We previously demonstrated the involvement of the Wnt

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