muscular atrophy/epileptisk anfald

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Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

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Epilepsy is a phenotypically and genetically highly heterogeneous disorder with >200 genes linked to inherited forms of the disease. To identify the underlying genetic cause in a patient with intractable seizures, optic atrophy, severe intellectual disability (ID), brain abnormalities, and muscular

Characterization of a commonly used mouse model of SMA reveals increased seizure susceptibility and heightened fear response in FVB/N mice.

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The SMN2 transgenic mouse, Tg(SMN2)89Ahmb, has emerged as the most widely used in spinal muscular atrophy (SMA) research. Here we clone the genomic integration site of the transgene and demonstrate it to be in intron 4 of the metabotropic glutamate receptor 7 (mGluR7) gene. We found that the

[A case of hypertrophic cranial pachymeningitis associated with intramedullary lesion developed seizure marching from right lower extremity].

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A case of hypertrophic cranial pachymeningitis associated with intramedullary lesion was reported. A 57-year-old male presented with the symptoms of Jacksonian seizure and weakness of right lower extremity. Neurological examination showed weakness and muscular atrophy of right lower extremity (MMT

Progressive myoclonic epilepsy, nerve deafness and spinal muscular atrophy.

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A boy of Finnish descent developed nerve deafness at six years of age, action myoclonus two years later, generalized myoclonic seizures when 16 years old and muscular atrophy at the age of 17 years. Bulbar palsy caused his death from inhalational pneumonia when he was 19 years old. Autopsy disclosed

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.

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OBJECTIVE To present the clinical features and the results of laboratory investigations in three patients with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a rare condition caused by mutations in the N-acylsphingosine amidohydrosilase 1 (ASAH1) gene. METHODS The

Mitochondrial respiratory complex I deficiency simulating spinal muscular atrophy.

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Two female patients with clinical features resembling spinal muscular atrophy were presented. Patient 1 presented with hypotonia and proximal weakness of extremities at age 4 months. Electromyography revealed motor neuronopathy suggestive of spinal muscular atrophy. Patient 2 presented with severe

X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron.

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ATP7A is a copper-transporting P-type ATPase that is essential for cellular copper homeostasis. Loss-of-function mutations in the ATP7A gene result in Menkes disease, a fatal neurodegenerative disorder resulting in seizures, hypotonia and failure to thrive, due to systemic copper deficiency. Most

Spinal muscular atrophy with oculomotor palsy, epilepsy, and cerebellar hypoperfusion.

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We report a boy with spinal muscular atrophy (SMA) type 1, who developed novel clinical and neuroradiologic features, indicating the broad spectrum of this degenerative disease. Widespread lesions in the central nervous system were disclosed by magnetic resonance imaging and single photon emission

Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.

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Spinal muscular atrophy (SMA) is a neuromuscular autosomal recessive disease characterized by progressive muscle weakness and atrophy combined with motor neuron degeneration caused by mutations in the SMN 1 gene locus (5q11.2-13.2). Rett syndrome (RS) is an X-linked dominant neurodevelopmental

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.

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We describe two unrelated patients, a 12-yr-old female and a 6-yr-old male, with congenital contractures and severe congenital muscular atrophy. Exome and genome sequencing of the probands and their unaffected parents revealed that they have the same de novo deletion in BICD2 (c.1636_1638delAAT).

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.

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Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a recently delineated, autosomal recessive condition caused by rare mutations in the N-acylsphingosine amidohydrolase 1 (acid ceramidase) ASAH1 gene. It is characterized by motor neuron disease followed by progressive myoclonic

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.

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Infants with deficiency of cytochrome c oxidase (COX) due to SCO2 mutations observed so far usually demonstrated early cardiomyopathy, encephalopathy and lactic acidosis. Milder spinal muscular atrophy-like (SMA-like) phenotype was also rarely reported. The aim is to present 18 Polish patients with

A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran.

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Spinal muscular atrophy (SMA) is a disorder characterized by decreased motor function due to the muscle atrophy in the background of degenerated anterior horn cells and motor cells of lower cranial nerves nuclei. The most frequent form is inherited as an autosomal recessive trait resulting from

Anti-Ma2 associated paraneoplastic neurological syndrome presenting as encephalitis and progressive muscular atrophy.

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A 36 year old man with a history of testicular germ cell tumour presented six months after bilateral orchidectomy with progressive amnesia, irritability, vertical gaze palsy, and generalised seizures. Eight months after initial onset of symptoms, he demonstrated a head drop with muscular atrophy of

Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case.

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Occipital horn syndrome (OHS, Ehlers-Danlos syndrome type IX) belongs to the category of the copper metabolism disorders and is at present being investigated biochemically as is Menkes' disease. Unlike Menkes' disease, most patients with OHS have mild submentality. We report a case of OHS with

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