CLN6‐related continuum phenotype caused by aberrant splicing

CLN6‐related continuum phenotype caused by aberrant splicing

Abstract Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life‐expectancy. CLN6‐related NCLs include both late‐infantile and adult myoclonic form. We r...

Full description

Saved in:

Bibliographic Details
Main Authors:	Federica Invernizzi, Barbara Castellotti, Chiara Reale, Celeste Panteghini, Isabel Colangelo, Roberta Solazzi, Francesca Ragona, Lucio Giordano, Jessica Galli, Davide Rossi Sebastiano, Gianluca Marucci, Valeria Cuccarini, Giuseppe Didato, Cinzia Gellera, Barbara Garavaglia, Tiziana Granata, Laura Canafoglia
Format:	Article
Language:	English
Published:	Wiley 2025-02-01
Series:	Epilepsia Open
Subjects:	Kufs' disease neuronal ceroidlipofuscinosis occipital seizures photoparoxysmal response progressive myoclonus epilepsy
Online Access:	https://doi.org/10.1002/epi4.13119
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Drug-Induced Myoclonus: A Systematic Review
by: Jamir Pitton Rissardo, et al.
Published: (2025-01-01)

Bir Aykırı Yerel Katılım Örneği Olarak Küf Project
by: Büşra Nur Çağın, et al.
Published: (2023-12-01)

Inception networks, data augmentation and transfer learning in EEG-based photosensitivity diagnosis
by: Fernando Moncada Martins, et al.
Published: (2025-01-01)

Paradoxical reactions to midazolam: A case report
by: Shenglin Chi, et al.
Published: (2025-02-01)

Diligent family history to detect a mitochondrial disorder in disguise: Lessons from a case of myoclonic epilepsy
by: Suvorit S. Bhowmick, et al.
Published: (2024-12-01)

Pharmacological approaches in drug-resistant pediatric epilepsies caused by pathogenic variants in potassium channel genes
by: Ilaria Filareto, et al.
Published: (2025-01-01)

Occipital bone fractures in two-wheeler road traffic accidents: Understanding contrecoup brain injuries and implications for prevention
by: Robert Mark Wallang, et al.
Published: (2024-12-01)

The Fault in our Stars – Starry-coloured Halos in Occipital Lobe Infarct
by: Kaaviya Asokan, et al.
Published: (2024-12-01)

A Morphological Study of Assimilation of Atlas Vertebrae and their Clinical Implications in Indian Population
by: Nishigandha Sadamate, et al.
Published: (2024-12-01)

Contemporary Treatment Practices for Subacute Sclerosing Panencephalitis: A Nationwide Survey Among Adult and Pediatric Neurologists in India
by: Divyani Garg, et al.
Published: (2024-12-01)

The case of Kinsburn’s Encephalopathy in a child with neuroblastoma of posterior mediastinum
by: T.I. Stetsenko, et al.
Published: (2024-02-01)

Opsoclonus-myoclonus syndrome in the course of teratoma: a case report
by: Mateusz Szczupak, et al.
Published: (2025-01-01)

Anaesthetic management of infant with occipital encephalocele associated with Arnold Chiari III malformation - A Case Report
by: Vandana Patilbuwa Pakhare, et al.
Published: (2025-01-01)

Alpha EEG Spectral Characteristics in the Parieto-Occipital lobe of Elderly Patients with Chronic Insomnia and Mild Cognitive Impairment
by: GUO Zhenxing, et al.
Published: (2024-01-01)

Clinical efficacy of low‐dose Perampanel correlates with neurophysiological changes in familial adult myoclonus epilepsy 2
by: Antonietta Coppola, et al.
Published: (2025-02-01)

Myoclonic status epilepticus with dystonia-like symptoms in patients with dementia: Report of two cases
by: Rosario V. Rossi, et al.
Published: (2025-03-01)

The Association of Occipital Spur with Craniocervical Posture and Craniofacial Morphology
by: Cheng Q, et al.
Published: (2025-01-01)

PASIEN SINDROMA APERT YANG DILAKUKAN OPERASI FRONTO ORBITAL ADVANCEMENT SETELAH OCCIPITAL EXPANSION
by: Almahitta Cintami Putria, et al.
Published: (2022-06-01)

Myoclonus
by: R. Rimšienė, et al.
Published: (2020-12-01)

Alice in Wonderland Syndrome: Localising insights from right visual cortex stroke complicated by epilepsia partialis continua
by: Gashirai K. Mbizvo, et al.
Published: (2025-03-01)

A meta-analytic evaluation of the efficacy and safety of levetiracetam for treating myoclonic seizures
by: Sara Najafi, et al.
Published: (2025-02-01)

Acute respiratory failure induced by belly dancer’s syndrome: A glance to a rare case report
by: Ruth Elizabeth Abraham, et al.
Published: (2023-07-01)

Comparative efficacy and safety of 20 intravenous pharmaceutical intervention for prevention of etomidate-induced myoclonus: a systematic review and Bayesian network meta-analysis
by: Lu Chen, et al.
Published: (2025-01-01)

Management of a traumatic avulsion fracture of the occipital condyle in polytrauma patient in Korea: a case report
by: Chang Hwa Ham, et al.
Published: (2023-06-01)

Application of a novel sliding ⁃ traction head holder in craniovertebral junction abnormalities surgery
by: WU Kun, et al.
Published: (2024-12-01)

The utilization of the multimodal immunotherapy for the opsoclonus–myoclonus syndrome can reduce relapses and permanent neurological sequelae
by: Fang He, et al.
Published: (2025-02-01)

In Key of Conflict: Dynamic of the Regional Work Industry in Mendoza, Argentina
by: Eliana Celeste Canafoglia
Published: (2019-01-01)

OBSERVATION OF THE NORMAL DEVELOPMENTAL PATTERN OF FETAL CEREBRAL SULCI BETWEEN 18 TO 32 WEEKS OF GESTATIONAL AGE BY USING ULTRASONOGRAPHY - A CORRELATIONAL STUDY BETWEEN TWO MATERNAL AGE GROUPS
by: Sujith Kumar Reddy Madithati, et al.
Published: (2022-12-01)

Trehalose Ameliorates Zebrafish Emotional and Social Deficits Caused by CLN8 Dysfunction
by: Rosario Licitra, et al.
Published: (2025-01-01)

The crystal structure of 4-(chloromethyl)benzonitrile, C8H6ClN
by: Miao Mingzhi, et al.
Published: (2022-08-01)

Crystal structure of 4-chloro-1-isobutyl-1H-imidazo, C14H14ClN3
by: Meng Fanchao, et al.
Published: (2025-02-01)

The Batten disease gene Cln3 is required for the activation of intestinal stem cell during regeneration via JAK/STAT signaling in Drosophila
by: Zihua Yu, et al.
Published: (2025-01-01)

The co-crystal structure of 4-chlorobenzophenone–salicylhydrazide(1/1), C20H17ClN2O3
by: Wang Ji, et al.
Published: (2025-02-01)

The crystal structure of 2-amino-4-carboxypyridin-1-ium perchlorate, C6H7ClN2O6
by: Zhang Tao, et al.
Published: (2023-08-01)

Crystal structure of (E)-N′-(2-chloro-6-hydroxybenzylidene)-2-hydroxybenzohydrazide, C14H11ClN2O3
by: Liu Jianlian, et al.
Published: (2021-09-01)

Crystal structure of 4-chloro-N′-[(1E)-(2-nitrophenyl)methylidene]benzohydrazide, C14H10ClN3O3
by: Al-Wahaibi Lamya H., et al.
Published: (2023-08-01)

Topic Analysis of the Literature Reveals the Research Structure: A Case Study in Periodontics
by: Carlo Galli, et al.
Published: (2025-01-01)

The crystal structure of 4-chloro-2-(quinolin-8-yl)isoindoline-1,3-dione, C17H9ClN2O2
by: Yang Fan, et al.
Published: (2021-09-01)

The crystal structure of N-(6-chloro-2-methyl-2H-indazol-5-yl)acetamide, C10H10ClN3O
by: Du Yi-Jing, et al.
Published: (2023-08-01)

Two-year follow-up of gait and postural control following initiation of recombinant human tripeptidyl intracerebroventricular enzyme replacement therapy in two atypical CLN2 patients
by: Rahul Soangra, et al.
Published: (2025-01-01)