Background: Mutations in the KCTD7 gene have been associated with progressive myoclonus epilepsy and, in a single patient, with the so-called “Neuronal Ceroid Lipofuscinosis 14” (characterised by myoclonic seizures, cognitive regression, optic atrophy leading to visual loss, and progressive cortical and cerebellar atrophy). Clinical reports: We describe two new patients carrying two novel pathogenic mutations in the KCTD7 gene. Patient 1 (NM_153033.4: c.[533C > T], NP_694578: p.[(Ala178Val)]) was a 17-year-old girl who presented with early-onset epilepsy resembling epilepsia partialis continua (responsive to intravenous corticosteroids and immunoglobulins), and later developed myoclonic seizures and atypical absences, photosensitivity to very low frequencies and progressive seizures-related neurocognitive and motor deterioration. Patient 2 (NM_153033.4: c.[172G>A], NP_694578: p.[(Gly58Arg)]) presented with early neurological regression, myoclonic seizures and lysosomal storage material which was consistent with a neuronal ceroid lipofuscinosis (NCL) at skin biopsy. Both patients had non epileptic myoclonus. Conclusions: The two reported patients carrying novel pathogenic variants in KCTD7 gene presented with a remarkable phenotypic heterogeneity including: a) progressive myoclonus epilepsy without NCL-type lysosomal storages; b) progressive myoclonus epilepsy with lysosomal storages resembling NCL pattern (NCL14); c) progressive myoclonus epilepsy with epilepsia partialis continua.

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14. The multifaceted phenotypic spectrum of KCTD7-related disorders / Mastrangelo, Mario; Sartori, Stefano; Simonati, Alessandro; Brinciotti, Mario; Moro, EMILIA FRANCESCA; Nosadini, Margherita; Pezzini, Francesco; Doccini, Stefano; Santorelli, Filippo Maria; Leuzzi, Vincenzo. - In: EUROPEAN JOURNAL OF MEDICAL GENETICS. - ISSN 1769-7212. - (2018). [10.1016/j.ejmg.2018.11.025]

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14. The multifaceted phenotypic spectrum of KCTD7-related disorders

Mastrangelo, Mario;Brinciotti, Mario;MORO, EMILIA FRANCESCA;Santorelli, Filippo Maria;Leuzzi, Vincenzo
2018

Abstract

Background: Mutations in the KCTD7 gene have been associated with progressive myoclonus epilepsy and, in a single patient, with the so-called “Neuronal Ceroid Lipofuscinosis 14” (characterised by myoclonic seizures, cognitive regression, optic atrophy leading to visual loss, and progressive cortical and cerebellar atrophy). Clinical reports: We describe two new patients carrying two novel pathogenic mutations in the KCTD7 gene. Patient 1 (NM_153033.4: c.[533C > T], NP_694578: p.[(Ala178Val)]) was a 17-year-old girl who presented with early-onset epilepsy resembling epilepsia partialis continua (responsive to intravenous corticosteroids and immunoglobulins), and later developed myoclonic seizures and atypical absences, photosensitivity to very low frequencies and progressive seizures-related neurocognitive and motor deterioration. Patient 2 (NM_153033.4: c.[172G>A], NP_694578: p.[(Gly58Arg)]) presented with early neurological regression, myoclonic seizures and lysosomal storage material which was consistent with a neuronal ceroid lipofuscinosis (NCL) at skin biopsy. Both patients had non epileptic myoclonus. Conclusions: The two reported patients carrying novel pathogenic variants in KCTD7 gene presented with a remarkable phenotypic heterogeneity including: a) progressive myoclonus epilepsy without NCL-type lysosomal storages; b) progressive myoclonus epilepsy with lysosomal storages resembling NCL pattern (NCL14); c) progressive myoclonus epilepsy with epilepsia partialis continua.
2018
Developmental encephalopathies; epilepsia partialis continua; epileptic encephalopathies; neuronal ceroidolipofuscinosis; progressive myoclonus epilepsy; genetics; genetics (clinical)
01 Pubblicazione su rivista::01a Articolo in rivista
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14. The multifaceted phenotypic spectrum of KCTD7-related disorders / Mastrangelo, Mario; Sartori, Stefano; Simonati, Alessandro; Brinciotti, Mario; Moro, EMILIA FRANCESCA; Nosadini, Margherita; Pezzini, Francesco; Doccini, Stefano; Santorelli, Filippo Maria; Leuzzi, Vincenzo. - In: EUROPEAN JOURNAL OF MEDICAL GENETICS. - ISSN 1769-7212. - (2018). [10.1016/j.ejmg.2018.11.025]
File allegati a questo prodotto
File Dimensione Formato  
Mastrangelo_Progressive_2018.pdf

solo gestori archivio

Tipologia: Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza: Tutti i diritti riservati (All rights reserved)
Dimensione 2.41 MB
Formato Adobe PDF
2.41 MB Adobe PDF   Contatta l'autore

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1205924
Citazioni
  • ???jsp.display-item.citation.pmc??? 6
  • Scopus 9
  • ???jsp.display-item.citation.isi??? 11
social impact