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Updates in Neuronal Ceroid Lipofuscinosis
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Introduction
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Genetics and Epidemiology
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Clinical Presentation
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Clinical Example
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Diagnostic Algorithm
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Diagnosis: EEG
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Diagnosis: Ophthalmological Evaluations
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EEG
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EEG With IPS
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Language Delay
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Language Delay (cont)
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Differential Diagnosis
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Differential Diagnosis (cont)
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Prognosis Over Time
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CLN2: Effect on Family
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Family Planning
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Symptom Management: Nonpharmacologic
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Symptom Management: Epilepsy
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Symptom Management: Movement
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Symptom Management: Psychopathological and Sleep
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Multidisciplinary Care
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Mechanism of Action for Future Therapies
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Enzyme Replacement Therapy
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Stem Cell Therapy
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Gene Therapy
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Gene Therapy (cont)
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Conclusion
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Abbreviations
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Abbreviations (cont)
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