Developmental and epileptic encephalopathies

IE Scheffer, S Zuberi, HC Mefford, R Guerrini… - Nature Reviews …, 2024 - nature.com
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

SE Mole, G Anderson, HA Band, SF Berkovic… - The Lancet …, 2019 - thelancet.com
Treatment of the neuronal ceroid lipofuscinoses, also known as Batten disease, is at the start
of a new era because of diagnostic and therapeutic advances relevant to this group of …

Therapeutic landscape for Batten disease: current treatments and future prospects

TB Johnson, JT Cain, KA White… - Nature Reviews …, 2019 - nature.com
Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of
devastating lysosomal storage disorders that collectively represent the most common …

The neuronal ceroid-lipofuscinoses (Batten disease)

SE Mole, A Schulz - Rosenberg's Molecular and Genetic Basis of …, 2025 - Elsevier
The neuronal ceroid-lipofuscinoses (NCLs), collectively also called Batten disease,
constitute one of the most common groups of inherited neurodegenerative disorders in …

Current and emerging treatment strategies for neuronal ceroid lipofuscinoses

A Kohlschütter, A Schulz, U Bartsch, S Storch - CNS drugs, 2019 - Springer
The neuronal ceroid lipofuscinoses comprise a group of neurodegenerative lysosomal
storage disorders caused by mutations in at least 13 different genes and primarily affect the …

Neuronal ceroid lipofuscinosis: the multifaceted approach to the clinical issues, an overview

A Simonati, RE Williams - Frontiers in neurology, 2022 - frontiersin.org
The main aim of this review is to summarize the current state-of-art in the field of childhood
Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders. These …

The genetic basis of phenotypic heterogeneity in the neuronal ceroid lipofuscinoses

E Gardner, SE Mole - Frontiers in Neurology, 2021 - frontiersin.org
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
disorders that affect children and adults. They share some similar clinical features and the …

Neuronal ceroid lipofuscinosis: potential for targeted therapy

N Specchio, A Ferretti, M Trivisano, N Pietrafusa… - Drugs, 2021 - Springer
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal
storage diseases that together represent the most common cause of dementia in children …

Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2

D Sondhi, SM Kaminsky, NR Hackett… - Science translational …, 2020 - science.org
Late infantile Batten disease (CLN2 disease) is an autosomal recessive, neurodegenerative
lysosomal storage disease caused by mutations in the CLN2 gene encoding tripeptidyl …

Changing times for CLN2 disease: the era of enzyme replacement therapy

N Specchio, N Pietrafusa… - Therapeutics and clinical …, 2020 - Taylor & Francis
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a progressive neurodegenerative
disease that results in early-onset, severe, progressive, neurological disabilities, leading to …