Progressive epilepsy-intellectual disability syndrome, Finnish type

Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.



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Narrow down the case reports



Total: 4 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 27844444
 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
Sahin Y, Gungor O, Gormez Z, Demirci H, Erguner B, Gungor G, Dilber C.
Acta Neurol Belg. 2017;117(1):159-167.
Visual impairment
CLN8
c|SUB|T|677|C p|SUB|L|226|P rs1366421988 rs386834124 rs761621368
Adult DNA Mutational Analysis Exome Homo sapiens Homozygote Male Membrane Proteins Mutation Neuronal Ceroid-Lipofuscinoses Young Adult
1
(4.0%)		 19748052
 Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.
Goldberg-Stern H, Halevi A, Marom D, Straussberg R, Mimouni-Bloch A.
Pediatr Neurol. 2009;41(4):297-300.
Visual loss
PPT1 TPP1
Age of Onset Aminopeptidase Brain Child Child, Preschool Dipeptidyl-Peptidases and Tripeptidyl-Peptidases Electroencephalography Females Homo sapiens Homozygote Magnetic Resonance Imaging Male Neuronal Ceroid-Lipofuscinoses Sequence Deletion Serine Proteases Sibling Tripeptidyl-Peptidase 1
1
(4.0%)		 17129765
 Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.
Striano P, Specchio N, Biancheri R, Cannelli N, Simonati A, Cassandrini D, Rossi A, Bruno C, Fusco L, Gaggero R, Vigevano F, Bertini E, Zara F, Santorelli FM, Striano S.
Epilepsy Behav. 2007;10(1):187-91.
Visual loss
CLN8 NCL
Child Electroencephalography Epilepsy Homo sapiens Italy Magnetic Resonance Imaging Male Membrane Proteins Mutation
1
(4.0%)		 10764041
 Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis.
Herva R, Tyynela J, Hirvasniemi A, Syrjakallio-Ylitalo M, Haltia M.
Brain Pathol. 2000;10(2):215-22.
Mental deterioration
CA1 CA2 CA3 CA4
Adult Electron Microscopy Electrophoresis, Gel, Two-Dimensional Homo sapiens Immunohistochemistry Male Middle Aged Neuronal Ceroid-Lipofuscinoses Tonic-Clonic Epilepsy
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0000529 Progressive visual loss Very frequent (99-80%)
HP:0000708 Behavioral abnormality Very frequent (99-80%)
HP:0000711 Restlessness Very frequent (99-80%)
HP:0002069 Generalized tonic-clonic seizures Very frequent (99-80%)
HP:0002312 Clumsiness Very frequent (99-80%)
HP:0002353 EEG abnormality Very frequent (99-80%)
HP:0002384 Focal impaired awareness seizure Very frequent (99-80%)
HP:0000709 Psychosis Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001268 Mental deterioration Frequent (79-30%)
HP:0002376 Developmental regression Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000572 Visual loss 1
HP:0001336 Myoclonus 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
CLN8 CLN8 transmembrane ER and ERGIC protein 2055