Results 41 to 50 of about 175,504,466 (285)

Temporal epilepsy in an adult due to complex malformation of cortical development [PDF]

Romanian Journal of Neurology, 2012
We present the case of a 26 years right-handed old female with partial complex seizures due to a complex right temporo-parietal region with nodular heterotopia, polymicrogyria.
Adina Roceanu, Andrei Valentin Rata, Ovidiu Bajenaru   +2 more
doaj   +1 more source

Neuroanatomical Alterations in the CNTNAP2 Mouse Model of Autism Spectrum Disorder

Brain Sciences, 2023
Autism spectrum disorder (ASD) is associated with neurodevelopmental alterations, including atypical forebrain cellular organization. Mutations in several ASD-related genes often result in cerebral cortical anomalies, such as the abnormal developmental ...
Tanya Gandhi, Cade R. Canepa, Tolulope T. Adeyelu, Philip A. Adeniyi, Charles C. Lee   +4 more
doaj   +1 more source

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation [PDF]

, 2006
Several brain malformations have been described in rare patients with the deletion 22q11.2 syndrome (DEL22q11) including agenesis of the corpus callosum, pachygyria or polymicrogyria (PMG), cerebellar anomalies and meningomyelocele, with PMG reported ...
Earl, Dawn, McDonald, Marie, Peter Bingham, Kimonis, Virginia, Massey, Roger F, Naomi Katz, Cathy A. Stevens, Leventer, Richard J, Collins, Kevin J, Clare J. Taylor, Nathaniel H. Robin, Roger F. Massey, Gill, Deepak, Richard J Leventer, Miranda Splitt, Mohammed, Shehla N, Kevin J. Collins, Elaine H. Zackai, Pilz, Daniela T, David R. Lynch, Splitt, Miranda, Marie McDonald, William B. Dobyns, Tiziana Granata, Virginia Kimonis, Donna M. McDonald‐McGinn, Stevens, Cathy A, Jean‐Pierre Lin, Zackai, Elaine H, Granata, Tiziana, McDonald‐McGinn, Donna M, Rogers, R Curtis, Shehla N. Mohammed, Tischkowitz, Marc D, Deepak Gill, Marc D. Tischkowitz, Neil Stoodley, Lin, Jean‐Pierre, Robin, Nathaniel H, Katz, Naomi, Lynch, David R, Stoodley, Neil, R. Curtis Rogers, Bingham, Peter, Renzo Guerrini, Dobyns, William B, Guerrini, Renzo, Daniela T. Pilz, Taylor, Clare J, Dawn Earl   +49 more
core   +1 more source

Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations [PDF]

, 2018
Mutations in the sodium-activated potassium channel gene KCNT1 have been associated with nonlesional sleep-related hypermotor epilepsy (SHE). We report the co-occurrence of mild malformation of cortical development (mMCD) and KCNT1 mutations in four ...
Hirsch E., Bramerio M., Prayson R. A., Dibbens L. M., Chelly J., Moller R. S., Gardella E., Rubboli G., Nobili L., Kahane P., Boutonnat J., Plazzi G., Baulac S., Picard F., Gardella, Elena, Møller, Rikke S.; id_orcid, Boutonnat, Jean, Gardella, E., Dibbens, L, Rubboli, G., Chelly, J., Plazzi, G., Bramerio, M, Kahane, P, Møller, Rikke S., Prayson, R.A., Dibbens, Leanne M., Gardella, E, Hirsch, E., Rubboli, Guido, Moller, R.S., Baulac, Stéphanie, Picard, F., Chelly, Jameleddine, Kahane, P., Plazzi, G, Hirsch, Edouard, Prayson, Richard A., Nobili, L, Picard, Fabienne, Dibbens, L.M., Bramerio, Manuela, Picard, F, Nobili, Lino, Boutonnat, J, Boutonnat, J., Kahane, Philippe, Rubboli, G, Moller, R, Plazzi, Giuseppe, Nobili, L., Bramerio, M., Baulac, S., Chelly, Jamel, Baulac, S, Prayson, R   +55 more
core   +3 more sources

The efficacy of ketogenic diet in childhood intractable epilepsywith malformation of cortical development [PDF]

, 2006
Purpose: Malformation of cortical development(MCD) constitutes an important etiology of intractable epilepsy and is considered an indication for surgical treatments, though their efficacy is limited and variable depending on MCD's location or ...
이영목, 김흥동
core   +1 more source

Severe neonatal epileptic encephalopathy and KCNQ2 mutation: neuropathological substrate?

Frontiers in Pediatrics, 2014
Background:Neonatal convulsions are clinical manifestations in a heterogeneous group of disorders with different etiology and outcome. They are attributed to several genetic causes.
Charlotte eDalen Meurs-Van Der Schoor
doaj   +1 more source

Neuroimaging of septo-optic dysplasia-plus with midbrain hypoplasia and ophthalmoplegia

eNeurologicalSci, 2020
Septo-optic dysplasia is a rare brain malformation that can be associated with anomalous cortical development, such as schizencephaly, which is referred to as septo-optic dysplasia plus.
Colin Y. Wang, Daniel T. Ginat
doaj   +1 more source

Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies

Frontiers in Neuroanatomy, 2021
Hyperactivation of the mechanistic target of rapamycin complex 1 (mTORC1) due to mutations in genes along the PI3K-mTOR pathway and the GATOR1 complex causes a spectrum of neurodevelopmental disorders (termed mTORopathies) associated with malformation of
Lena H. Nguyen, Lena H. Nguyen, Angélique Bordey, Angélique Bordey   +3 more
doaj   +1 more source

A Classification Scheme for Malformations of Cortical Development

Neuropediatrics, 1996
Malformations of the cerebral cortex are being recognized more frequently as a cause of epilepsy, developmental delay, neurological deficits, and mental retardation. Nonetheless, a standard nomenclature and classification system of these malformations, based upon state-of-the art knowledge derived from genetics, embryology, imaging, and pathology, has ...
Barkovich, AJ., Kuzniecky, RI, Dobyns, WB, Jackson, GD, Becker, LE, Evrard, Philippe   +5 more
openaire   +2 more sources

The changing landscape in epilepsy imaging: Unmasking subtle and unique entities

Diagnostic and Interventional Radiology, 2022
Dramatic changes have occurred recently in the field of epilepsy, including a fundamental shift in the etiology of epileptogenic substrates found at surgery. Hippocampal sclerosis is no longer the most common etiology found at epilepsy surgery and this
Mehmet E. Adin, David Durand, William B Zucconi, Anita J Huttner, Dennis D Spencer, Richard A Bronen   +5 more
doaj   +1 more source