Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant (CLN8NE)

Alias:

Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant

Northern Epilepsy

Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type

Epmr

Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant

Cln8 Disease, Northern Epilepsy Variant

Ncl, Northern Epilepsy Variant

Northern Epilepsy Syndrome

Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant

Progressive Epilepsy with Mental Retardation, Northern Epilepsy

Epilepsy, Progressive, with Mental Retardation

Lipofuscinosis, Ceroid, Neuronal, Type 8b

Ceroid Lipofuscinosis, Neuronal, 8

Cln8ne

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant, also known as neuronal ceroid lipofuscinosis 8 northern epilepsy variant, is related to ceroid lipofuscinosis, neuronal, 6a and ceroid lipofuscinosis, neuronal, 1, and has symptoms including ataxia, myoclonus and seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant is CLN8 (CLN8 Transmembrane ER And ERGIC Protein). Affiliated tissues include brain and thalamus, and related phenotypes are intellectual disability and seizure

Related ID：

MALACARDS：CRD075

OMIM：610003

MESH：D009472