Results 121 to 130 of about 3,402 (231)

Autosomal recessive frontotemporal pachygyria [PDF]

, 2020

openalex   +1 more source

Pachygyria in a Saudi preteen female: A case report and review of literature [PDF]

, 2022
Oluniyi S Afolabi, Ahmed Mohamed Ezzeldeen Mahmoud   +1 more
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Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population [PDF]

, 2019
D.L. Polla, Elisa Rahikkala, Michaela K. Bode, Tuomo Määttä, Teppo Varilo, Thyrza Loman, Anju K. Philips, Mitja Kurki, Aarno Palotie, Jarmo Körkkö, Päivi Vieira, Kristiina Avela, Valérie Jacquemin, Isabelle Pirson, Marc Abramowicz, Arjan P.M. de Brouwer, Outi Kuismin, Hans van Bokhoven, Irma Järvelä   +18 more
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Pachygyria-intellectual disability-epilepsy syndrome [PDF]

, 2020

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Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome Lisencefalia, genitália ambígua e epilepsia refratária: relato de caso da síndrome XLAG

Arquivos de Neuro-Psiquiatria, 2006
INTRODUCTION: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum,
Mônica Jaques Spinosa, Paulo Breno Noronha Liberalesso, Simone Carreiro Vieira, Alaídes Susana Fojo Olmos, Alfredo Löhr Júnior   +4 more
doaj   +1 more source

Neurodevelopmental Disorders Associated with Chromosome 15 [PDF]

, 2011
Chromosome 15 is a focus of increasing interest to both psychiatry and neurology. Several neurodevelopmental disorders are genetically associated with this autosome, including Prader-Willi syndrome, Angelman syndrome, Dyslexia, Autism, Hyperlexia, Ring ...
Sieg, M.D., Karl G.
core   +1 more source

Neuronal migration disorders. Part II: Magnetic resonance imaging

The Turkish Journal of Pediatrics, 1998
With the widespread use of magnetic resonance imaging (MRI), neuronal migration disorders (NMD), including lissencephaly, pachygyria, polymicrogyria, schizencephaly, unilateral hemimegalencephaly and gray matter heterotopia, are more frequently ...
I Saatçi, G Turanli, Y Renda
doaj  

ILAE neuroimaging task force highlight: Subcortical laminar heterotopia [PDF]

The ILAE Neuroimaging Task Force publishes educational case reports that highlight basic aspects of neuroimaging in epilepsy consistent with the ILAE's educational mission. Subcortical laminar heterotopia, also known as subcortical band heterotopia (SBH)
Archer J., Bernhardt B. C., Caciagli L., Cendes F., Chinvarun Y., Concha L., Federico P., Gaillard W., Kasper B. S., Kobayashi E., Ogbole G., Rampp S., Vaudano A. E., Wang I., Wang S., Winston G.   +15 more
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Hemimegalencephaly with Facial Congenital Infiltrating Lipomatosis in a Child.

Iranian Journal of Public Health, 2014
We report an unusual case of hemimegalencephaly (HMG) associated with ipsilateral congenital-infiltrating lipomatosis of the face in a five-month-old boy.
Adrián Santana-Ramirez, Felipe Farias-Serratos, José Sanchez-Corona, Gema Castañeda-Cisneros, Nadia M Farias-Serratos   +4 more
doaj  

Clinical, Neuroradiological and Electroencephalographic Findings of Epileptic Patients with Malformation of Cortical Development

Archives of Epilepsy, 2019
Objectives:We aimed to review the clinical, neuroradiological and electroencephalographic (EEG) findings of patients with epilepsy and malformation of cortical development (MCD).Methods:A retrospective analysis of the medical records of epilepsy ...
Derya BAYRAM, Kemai TUTKAVUL, Yılmaz ÇETİNKAYA, Tamer BAYRAM, Hülya TİRELİ   +4 more
doaj   +1 more source