Results 61 to 70 of about 2,255 (147)

Clinical features of 21 patients with lissencephaly type I (agyria-pachygyria)

The Turkish Journal of Pediatrics, 2000
Lissencephaly (agyria-pachygyria) is the most severe neuronal migration disorder, characterized by total or partial absence of gyri. In this study, 21 patients with lissencephaly type I (9 girls, 12 boys) with a mean age of 19 +/- 21 months (2 ...
M Ozmen, Y Yilmaz, M Calişkan, O Minareci, N Aydinli   +4 more
doaj  

Distinct Features of Doublecortin as a Marker of Neuronal Migration and Its Implications in Cancer Cell Mobility

Frontiers in Molecular Neuroscience, 2017
Neuronal migration is a critical process in the development of the nervous system. Defects in the migration of the neurons are associated with diseases like lissencephaly, subcortical band heterotopia (SBH), and pachygyria.
Abiola A. Ayanlaja, Ye Xiong, Yue Gao, GuangQuan Ji, Chuanxi Tang, Zamzam Abdikani Abdullah, DianShuai Gao   +6 more
doaj   +1 more source

Neuroplasticity in an Adolescent with Corpus Callosum Agenesis Associated with Epilepsy

Revista Finlay, 2021
Neural plasticity represents the brain's ability to recover and restructure itself, allowing it to recover from disorders or injuries and reduce the effects of structural alterations, whether congenital or acquired. The agenesis of the corpus callosum is
Dámaris González Vidal, Osvaldo Ramón Aguilera Pacheco, Margarita Isabel Chávez Isla   +2 more
doaj  

Prenatal Diagnosis of Monosomy 17p (17p 13.3 → pter) Associated With Polyhydramnios, Intrauterine Growth Restriction, Ventriculomegaly, and Miller-Dieker Lissencephaly Syndrome in a Fetus

Taiwanese Journal of Obstetrics & Gynecology, 2009
Objective: To present the prenatal magnetic resonance imaging (MRI) and ultrasound findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with chromosome 17p13.3 deletion in a fetus.
Chin-Yi Lin, Chih-Ping Chen, Chiung-Ling Liau, Pen-Hua Su, Teng-Fu Tsao, Tung-Yao Chang, Wayseen Wang   +6 more
doaj   +1 more source

Pachygyria with cerebellar hypoplasia and tigroid pattern of the white matter secondary to neuronal migration disorders [PDF]

, 2022
Jihane El Houssni, Siham El Haddad, Latifa Chat, Nazik Allali   +3 more
openalex   +1 more source

Novel KIF5C Gene Mutation Leading to Frontal Pachygyria: A Rare Case Report and a Review of the Literature

, 2023
Udhaya Kotechaa, Mehul Mistri, Parth Shah, Nidhi Shah, Vivek Jain, Manisha Goyal   +5 more
openalex   +1 more source

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features [PDF]

, 2021
Maha S. Zaki, Andrea Accogli, Ghayda Mirzaa, Fatima Rahman, Hiba Mohammed, Gloria Liliana Porras-Hurtado, Stéphanie Efthymiou, Shazia Maqbool, Anju Shukla, John B. Vincent, A. Hussain, Asif Mir, Christian Beetz, Anika Leubauer, Henry Houlden, Joseph G. Gleeson, Reza Maroofian   +16 more
openalex   +1 more source

Congenital cytomegalovirus infection and cortical/subcortical malformations

Neurología (English Edition), 2012
Introduction: Intrauterine infection due to cytomegalovirus is the most common of the intrauterine viral/parasitic infections that affect the central nervous system (CNS) and cause permanent lesions in the cortex as well as the subcortical white matter ...
I. Pascual-Castroviejo, S.I. Pascual-Pascual, R. Velásquez-Fragua, J. Viaño López   +3 more
doaj   +1 more source

Infantile epileptic spasms syndrome in a child with lissencephaly associated with de novo PAFAH1B1 variant and coincidental CMV infection

Epilepsy & Behavior Reports
Type 1 lissencephaly is a brain malformation characterized by agyria and pachygyria and is known to be caused by congenital infections and genetic variations.
Nga Ying Eng, Duyu A. Nie
doaj   +1 more source

Citomegalia congénita y malformaciones corticales y subcorticales

Neurología, 2012
Resumen: Introducción: La infección intrauterina por citomegalovirus es la más frecuente de las viriasis/parasitosis intrauterinas que afectan al sistema nervioso central y causan lesiones permanentes tanto en el córtex como en la sustancia blanca ...
I. Pascual-Castroviejo, S.I. Pascual-Pascual, R. Velazquez-Fragua, J. Viaño Lopez   +3 more
doaj   +1 more source