Progressive epilepsy-intellectual deficit, Finnish type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION EPMR Neuronal ceroid lipofuscinosis, Northern epilepsy variant CLN8 disease, Northern epilepsy variant northern epilepsy NCL, Northern epilepsy variant |
| Number of Symptoms | 28 |
| OrphanetNr: | 1947 |
| OMIM Id: |
610003
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| ICD-10: |
E75.4 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Monogenic disease with epilepsy
-Rare genetic disease -Rare neurologic disease Neuronal ceroid lipofuscinosis -Rare eye disease -Rare genetic disease -Rare neurologic disease Progressive myoclonic epilepsy -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000572) | Visual loss | Very frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Very frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0002069) | Generalized tonic-clonic seizures | 96 / 7739 | ||||
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(HPO:0000711) | Restlessness | 18 / 7739 | ||||
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(HPO:0002384) | Focal seizures with impairment of consciousness or awareness | 17 / 7739 | ||||
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(HPO:0001268) | Mental deterioration | 88 / 7739 | ||||
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(HPO:0002312) | Clumsiness | 28 / 7739 | ||||
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(HPO:0000737) | Irritability | 93 / 7739 | ||||
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(HPO:0003205) | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 10 / 7739 | ||||
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(HPO:0002074) | Increased neuronal autofluorescent lipopigment | 10 / 7739 | ||||
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(OMIM) | Cerebellar atrophy, progressive | 6 / 7739 | ||||
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(HPO:0002059) | Cerebral atrophy | 171 / 7739 | ||||
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(OMIM) | Mental retardation by age 30 years | 1 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(OMIM) | Inattentiveness | 1 / 7739 | ||||
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(HPO:0003677) | Slow progression | 134 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Cerebral atrophy, progressive | 4 / 7739 | ||||
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(OMIM) | Intracellular granular material on ultrastructural analysis | 1 / 7739 | ||||
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(OMIM) | Seizures, onset age 5 to 10 years | 1 / 7739 | ||||
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(OMIM) | Irritability beginning at puberty | 1 / 7739 | ||||
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(OMIM) | Difficulties with equilibrium | 1 / 7739 | ||||
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(OMIM) | Autofluorescent lipopigment in neurons | 11 / 7739 | ||||
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(OMIM) | Mental deterioration beginning 2 to 5 years after onset of seizures | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 ... |
| Clinical Description OMIM |
Hirvasniemi et al. (1994) presented genealogic and phenotypic features of a recessively inherited form of childhood epilepsy occurring in the population of northern Finland, referred to as 'Northern epilepsy.' With 1 exception, both parents of all 11 sibships ... |
| Molecular genetics OMIM | In 22 Finnish patients with Northern epilepsy, Ranta et al. (1999) identified homozygosity for an arg24-to-gly mutation in the CLN8 gene (R24G; 607837.0001). The carrier frequency was 1 in 135, compatible with a founder effect. |