This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. [books.google.com]

Clinical description The clinical presentation varies widely between forms but the clinical hallmark is a combination of dementia, visual loss, and epilepsy. [orpha.net]

CLN2 disease most commonly presents with seizures and/or ataxia in the late-infantile period (ages 2–4), often in combination with a history of language delay, followed by progressive childhood dementia, motor and visual deterioration, and early death [moh-it.pure.elsevier.com]

Results: The present patient was a 4-year-old girl who presented at 2 years and 10 months old with seizures followed by ataxia, regression of skills, and eventual visual decline. TPP1 enzyme activity was below normal for age. [atm.amegroups.com]

The present diagnosis of Leber’s congenital amaurosis is not a clinical syndrome but an aspecific symptom complex. 1979 S. Karger AG, Basel Article / Publication Details First-Page Preview [karger.com]

Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. [books.google.com]

Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. [rarediseases.info.nih.gov]

PPP2R5D, PPT1, PURA, SCN1A, SCN1B, SCN2A, SLC19A3, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, STX1B, SYNGAP1, TBC1D24, TCF4, TPP1, UBE3A, WDR45, ZEB2 Clinical Utility: Molecular confirmation of a clinical diagnosis To assist with decisions about treatment [genedx.com]

Management and treatment There is no curative treatment for NCLs and management is supportive only. [orpha.net]

Prognosis Although all NCLs lead to severe disability, the prognosis is variable with life expectancy ranging from a few hours or days after birth for the congenital form to survival into the fifth decade for patients with the adult-onset form. [orpha.net]

Prognosis There will be mental impairment, worsening seizures and progressive loss of sight and motor skills. Batten's syndrome is often fatal by the late teens or twenties. [patient.info]

HER2 expression in breast cancer is associated with poor prognosis ( 26 ). [frontiersin.org]

Etiology To date, at least 10 genetic NCL disorders have been reported and are designated as CLN1 to CLN10. [orpha.net]

To date no specific enzymatic deficiency as the etiology of the condition is known. [healio.com]

Summary Epidemiology The exact prevalence and incidence of this group of disorders are unknown. [orpha.net]

Epidemiology It is a rare condition with a variable incidence across different countries. [patient.info]

Relevant External Links for CLN6 Genetic Association Database (GAD) CLN6 Human Genome Epidemiology (HuGE) Navigator CLN6 Atlas of Genetics and Cytogenetics in Oncology and Haematology: CLN6 No data available for Genatlas for CLN6 Gene Mutations in CLN7 [genecards.org]

Trends in epidemiology and management of breast cancer in developing Arab countries: a literature and registry analysis. Int J Surg (2007) 5 :225–33. doi:10.1016/j.ijsu.2006.06.015 PubMed Abstract CrossRef Full Text Google Scholar 7. [frontiersin.org]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Neuronal ceroid lipofuscinoses (NCLs) are a subset of lysosomal storage diseases that involve defective cellular processing of [mayomedicallaboratories.com]

In mice carrying a PPT1 mutation, NtBuHA prevented neuronal cell loss, mitigated behavioral deterioration and increased survival rates. [natureasia.com]

Supported in part by an unrestricted grant from Research to Prevent Blindness, Inc., New York, NY, and the Children’s Miracle Network. The authors have no proprietary interest in any aspect of this article. Reprint requests: Dean P. [journals.lww.com]

Physiotherapy helps affected children retain the ability to remain upright for as long as possible, and prevents some of the pain. Recent attempts to treat INCL with cystagon have been unsuccessful. [en.wikipedia.org]

Through defects in endocytosis, autophagy, lysosomal and mitochondrial function, and cytoskeleton, the JNCL gene defect may prevent cells from growing to wild-type size. [publikationen.ub.uni-frankfurt.de]

Postoperatively, non-invasive techniques of respiratory support such as bilevel positive airway pressure support (BiPAP) may facilitate postoperative tracheal extubation and prevent atelectasis in patients with altered respiratory function. [26], [27] [saudija.org]