Results 71 to 80 of about 7,495 (203)

Diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center

Epilepsia Open, Volume 11, Issue 3, Page 871-882, June 2026.
Abstract Objective To investigate the frequency, predictors, and clinical implications of diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition period to adult care at a tertiary epilepsy center. Methods We conducted a retrospective cohort study of 317 patients previously diagnosed with childhood ...
Tetsuhiro Fukuyama, Masaru Nasuno, Manami Yabe, Makoto Nishioka, Yumi Hoshino, Takenori Natsume, Kohei Kanaya, Kyoko Takano, Tomoki Kaneko, Yushi Inoue   +9 more
wiley   +1 more source

DCX knockout ferret reveals a neurogenic mechanism in cortical development

Cell Reports
Summary: Lissencephaly is a rare brain malformation for which our understanding remains limited due to the absence of suitable animal models that accurately represent human phenotypes.
Wei Wang, Chonghai Yin, Shaonan Wen, Zeyuan Liu, Bosong Wang, Bo Zeng, Le Sun, Xin Zhou, Suijuan Zhong, Junjing Zhang, Wenji Ma, Qian Wu, Xiaoqun Wang   +12 more
doaj   +1 more source

EEG in lissencephaly [PDF]

International Journal of Epilepsy, 2014
AbstractWe report the characteristic EEG findings of an infant with lissencephaly who presented with infantile spasms.
Satinder Aneja, Puneet Jain, Suvasini Sharma   +2 more
openaire   +1 more source

Complete seizure freedom following minimally invasive laser callosotomy in a patient with lissencephaly type 1: Challenging the traditional paradigm

Epileptic Disorders, EarlyView.
Agilda Dema, Archie Baskaran, Joshua Chang, Douglas Nordli III, Peter Warnke   +4 more
wiley   +1 more source

The Recycling Endosomal (Na+, K+)/H+ Exchanger NHE6/SLC9A6 Facilitates Signal Transduction by Shuttling Cyclin‐Dependent Kinase 5 to the Plasma Membrane

Acta Physiologica, Volume 242, Issue 6, June 2026.
ABSTRACT Aim The alkali cation/proton exchanger NHE6/SLC9A6 regulates luminal pH homeostasis and trafficking of recycling endosomes in most tissues, especially neurons. Loss‐of‐function mutations in NHE6 cause Christianson Syndrome, an X‐linked neurodevelopmental and neurodegenerative disorder; however, the underlying molecular and cellular mechanisms ...
Rebecca Flessner, Alina Ilie, Léo Han, Annie Boucher, Rebecca Anne McKinney, Reza Sharif‐Naeini, John Orlowski   +6 more
wiley   +1 more source

EEG and neuroimaging correlations in children with lissencephaly [PDF]

, 2013
PurposeTo study the usefulness of EEG in the diagnosis of lissencephaly, a rare cortical developmental disorder associated with abnormal cellular proliferation.
Menascu, S., Hoffman, H., Cortez, M.A., Farooq, O., Weinstock, A.   +4 more
core   +1 more source

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3

Frontiers in Genetics, 2018
Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred.
Sara M. Blazejewski, Sarah A. Bennison, Trevor H. Smith, Kazuhito Toyo-oka   +3 more
doaj   +1 more source

The Long Haul: Microtubule Motors as the Essential Supply Line for Neuronal Longevity

Journal of Neurochemistry, Volume 170, Issue 6, June 2026.
To survive a lifetime, neurons depend on a high‐fidelity logistics network powered by microtubule motors. We explore how a broad spectrum of genetic defects in this machinery drive a devastating spectrum of neurodevelopmental and neurodegenerative diseases, including Hereditary Spastic Paraplegia (HSP), Charcot–Marie‐Tooth Type 2 (CMT2), and ...
Emma D. Turner, Alison E. Twelvetrees
wiley   +1 more source

Clinical and diagnostic features in lissencephaly type 1 [PDF]

, 1991
The incentive to start this study in 1986 were two patients with lissencephaly, observed during my training as a neurologist. Such an exceptional occasion prompted an attempt to collect a large group of patients with lissencephaly type I, a rare ...
Rijk-Van Andel, J.F. (Johanneke) de
core  

Recurrent KIF2A mutations are responsible for classic lissencephaly [PDF]

, 2017
International audienceKinesins play a critical role in the organization and dynamics of the microtubule cytoskeleton, making them central players in neuronal proliferation, neuronal migration, and postmigrational development.
Morjani, A. el, Coubes, Christine, Drouin-Garaud, Valérie, Moutton, S., Maillard, C., Bole-Feysot, Christine, Bijlsma, E.K., Guerrot, Anne-Marie, Cavallin, M., Peeters, E.A.J., Bijlsma, Emilia, Fourrage, C., Moutton, Sébastien, Steffann, Julie, Guerrot, A.M., Peeters, Els, Geneviève, David, Genevieve, D., Fourrage, Cécile, Pedespan, J.M., Bahi-Buisson, N., Maillard, Camille, Coubes, C., Steffann, J., Bole-Feysot, C., El Morjani, Adrienne, Bahi-Buisson, Nadia, Drouin-Garaud, V., Cavallin, Mara, Pedespan, Jean Michel   +29 more
core   +1 more source