macular degeneration/епилептични припадъци

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Safety of retigabine in adults with partial-onset seizures after long-term exposure: focus on unexpected ophthalmological and dermatological events.

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Retigabine is an antiepileptic drug developed for the adjunctive treatment of adults with epilepsy and partial-onset seizures (POS). Following its approval in 2011, reports of ophthalmological/dermatological pigmentation/discoloration led to a restriction of the indication in 2013, and

Homozygous Expression of Mutant ELOVL4 Leads to Seizures and Death in a Novel Animal Model of Very Long-Chain Fatty Acid Deficiency.

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Lipids are essential components of the nervous system. However, the functions of very long-chain fatty acids (VLC-FA; ≥ 28 carbons) in the brain are unknown. The enzyme ELOngation of Very Long-chain fatty acids-4 (ELOVL4) catalyzes the rate-limiting step in the biosynthesis of VLC-FA (Agbaga et al.,

[Severe ocular side effects with Topamax].

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METHODS We describe 2 patients who developed ocular side effects during treatment with topiramate. One was a 16-year-old woman with generalized seizures who developed a homonymous hemianopia after using topiramate 125 mg per day for 12 weeks, and the other was a 24-year-old epileptic female who

De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.

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We analyzed our two new cases of infantile-onset epilepsy with developmental delay with de novo variant in TUBB2A and review the related literatures. Our two probands were both girls with infantile-onset epilepsy and global developmental delay. Case 1 had a novel de novo heterozygous missense

Integrating EMR-linked and in vivo functional genetic data to identify new genotype-phenotype associations.

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The coupling of electronic medical records (EMR) with genetic data has created the potential for implementing reverse genetic approaches in humans, whereby the function of a gene is inferred from the shared pattern of morbidity among homozygotes of a genetic variant. We explored the feasibility of

ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function.

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ELOngation of Very Long chain fatty acids-4 (ELOVL4) is an elongase responsible for the biosynthesis of very long chain (VLC, ≥C28) saturated (VLC-SFA) and polyunsaturated (VLC-PUFA) fatty acids in brain, retina, skin, Meibomian glands, and testes. Fascinatingly, different mutations in this gene

Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report.

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BACKGROUND The neuronal ceroid lipofuscinoses are a group of neurodegenerative, lysosomal storage disorders. They are inherited as an autosomal recessive pattern with the exception of adult neuronal ceroid lipofuscinosis, which can be inherited in either an autosomal recessive or an autosomal

Role of sildenafil in neurological disorders.

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Sildenafil, a phosphodiesterase-5 inhibitor commonly used for erectile dysfunction, may also have a beneficial therapeutic effect in the treatment of stroke, subarachnoid hemorrhage, dementia, learning, and neurodegenerative disorders by enhancing angiogenesis and neurogenesis. It also favorably

Olivopontocerebellar atrophy in children: a report of seven cases in two families.

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We present seven cases of progressive ataxia with onset in childhood along with pathological findings in three patients. One patient showed pure cerebellar degeneration and had no visual changes. His brother had classic changes of olivopontocerebellar atrophy with profound amyotrophy but no visual

Human secretory phospholipase A(2), group IB in normal eyes and in eye diseases.

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OBJECTIVE Secretory phospholipases A(2) (sPLA(2)) are enzymes involved in lipid turnover. We recently identified sPLA(2) group IB (GIB) in the rat retina as well as in cerebral neurons and found upregulation to occur in response to light damage and seizures, respectively. The purpose of the present

[Characterization of neuronal ceroid lipofuscinosis in Venezuelan children].

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BACKGROUND Neuronal ceroid lipofuscinosis (NCL), represents a group of inherited neurodegenerative disorders. Based on the age of the patient at onset, clinical course and ultrastructural morphology it has been identified three clinical types for the pediatric group: 1) Infantile NCL (INCL); 2) Late

Positron emission tomography in neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease): a case report.

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We report on a 13-year-old girl with late infantile neuronal ceroid lipofuscinosis (NCL) in whom PET scanning with [18F]-2-fluoro-2-deoxy-D-glucose ([18F]/FDG) was performed. Early psychomotor development was normal. At the age of 2 years, neurological signs such as hypotonia and incoordination

[Juvenile neuronal ceroid lipofuscinosis (Batten-Mayou) disease. Ophthalmologic diagnosis and findings].

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BACKGROUND Juvenile neuronal ceroid lipofuscinosis (JNCL) is important to the ophthalmologist, since eye symptoms are usually the first evidence of the disease and permit establishment of an early diagnosis. The disorder usually begins with a dramatic loss of vision between age 4 and 10 due to

Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.

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BACKGROUND The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, mental deterioration, seizures and visual loss secondary to retinal dystrophy. The juvenile type is of special interest to

Neuronal ceroid lipofuscinosis: a clinicopathological study.

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We report the clinical, electrophysiological, radiological and morphological features in a series of 12 patients of histopathologically confirmed cases (infantile, juvenile and adult onset) of neuronal ceroid lipofuscinosis (NCL) observed from 1979 to 1998 at National Institute of Mental Health &

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