Results 51 to 60 of about 7,495 (203)

Lissencephaly Type III Syndrome [PDF]

, 1996
Arthrogryposis multiplex congenita (AMC), called fetal akinesia sequence (FAS) in this study of 5 lethal cases, was associated with a distinctive neuropathological pattern, named type III lissencephaly syndrome, as reported from the Hopital Henri Mondor,
J Gordon Millichap
core   +1 more source

Anesthetic Management and Bispectral Index in a Child with Miller–Dieker Syndrome: A Case Report

Children, 2023
Miller–Dieker syndrome (MDS) is a genetic disorder characterized by classic lissencephaly, distinctive facial features, intellectual disability, seizures, and early death. The anesthetic management of patients with MDS should focus on airway manipulation
Sang Jin Park, Jongyoon Baek, Suyoun Chun, Eun Kyung Choi   +3 more
doaj   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Nonprimary Cytomegalovirus Fetal Infection [PDF]

Revista Brasileira de Ginecologia e Obstetrícia, 2016
Cytomegalovirus (CMV) is the most common congenital viral infection, causing hearing, visual and psychomotor impairment. Preexisting maternal CMV immunity substantially reduces, but not eliminates, the risk of fetal infection and affectation.
Sofia Rodrigues, Daniela Gonçalves, Ricardo Taipa, Maria do Céu Rodrigues   +3 more
doaj   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria [PDF]

, 2011
Background: Mutations in the TUBA1A gene have been reported in patients with lissencephaly and perisylvian pachygyria. Methods: Twenty-five patients with malformations of cortical development ranging from lissencephaly to polymicrogyria were screened ...
Oostra, AnnUGent801001870844972401982708F72B4A8A-F0ED-11E1-A9DE-61C894A0A6B4, Desprechins, B, Oostra, Ann, B. Desprechins, Jansen, AC, De Vlaeminck, Y, Bockaert, N, P. Verloo, Keymolen, K, Y. De Vlaeminck, W. Lissens, Seneca, S, Verhelst, HeleneGE35UZGent0019871446268020014817120000-0001-9433-79980136DDBE-F0EE-11E1-A9DE-61C894A0A6B4, De Meirleir, L, Regal, L, S. Seneca, L. Regal, N. Bockaert, K. Keymolen, L. De Meirleir, Verhelst, Helene, Lissens, W, H. Verhelst, A. Oostra, VERLOO, PATRICK, A. C. Jansen, VERLOO, PATRICKGE35UZGent0019920957678020045379190000-0003-2077-02751868fe89-8279-11ee-93ae-e96c8f1c45ee   +26 more
core   +1 more source

Double Cortex Syndrome

Pediatric Neurology Briefs, 1999
The incidence of mutations in the X-linked gene doublecortin in patients with “double cortex” syndrome (DC; also called subcortical band heterotopia or laminar heterotopia) and familial DC with lissencephaly was investigated in a cohort of 8 pedigrees ...
J Gordon Millichap
doaj   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

X-Linked Lissencephaly with Absent Corpus Callosum [PDF]

, 2002
Three new cases of the congenital syndrome consisting of X-linked lissencephaly, absent corpus callosum, and genital anomalies (XLAG) are reported from the University Hospital, Angers ...
J Gordon Millichap
core   +1 more source

Hippocampal and Congenital Brain Malformations

Pediatric Neurology Briefs, 2009
Sixty two patients, aged 15 days to 18 years, with congenital brain malformations were evaluated retrospectively to determine the association of various brain malformations with hippocampal abnormalities, in a study at Baskent University, Ankara, Turkey.
J Gordon Millichap
doaj   +1 more source