Results 81 to 90 of about 6,069 (199)

Polymicrogyria in Fetal Alcohol Syndrome

Neuropediatrics, 2009
AbstractBACKGROUND: Intrauterine exposure to alcohol may result in a distinct pattern of craniofacial abnormalities and central nervous system dysfunction, designated fetal alcohol syndrome (FAS). The spectrum of malformations of the brain associated with maternal alcohol abuse during pregnancy is much broader than the relatively uniform clinical ...
Reinhardt, Konstanze, Mohr, Alexander, Gärtner, Jutta, Spohr, Hans-Ludwig, Brockmann, Knut   +4 more
openaire   +3 more sources

Perinatal complications, mode of delivery, and neurological morbidity in children with COL4A1/A2 variants

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To characterize reported perinatal complications and childhood neurological diagnoses among children with COL4A1/2 variants and explore associations between mode of delivery and selected neurological outcomes. Method This was a retrospective cross‐sectional patient registry study using surveys collected through the Gould Syndrome ...
Shraddha Pandey, Dawn Gano, Danielle Boyce, Rachel Vassar   +3 more
wiley   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

, 2010
International audienceGPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities and cerebellar hypoplasia.
Moutard, Marie, Laure, El Maleh, Monique, Des Portes, Vincent, Patricia Dias, An, Isabelle, Lascelles, Karine, Karine Poirier, Nathalie Boddaert, Christine Soufflet, Maleh, Monique, El, Enrico Bertini, Karine Lascelles, Fallet-Bianco, Catherine, Cherif Beldjord, ÇAĞLAYAN, AHMET OKAY, Nicola Specchio, Elie, Caroline, Isabelle An, Moutard, Marie,, Jamel Chelly, Beldjord, Chérif, Caroline Elie, Catherine Fallet-Bianco, Okay Caglayan, Boddaert, Nathalie, Monique El Maleh, Rambaud, Jérôme, Soufflet, Christine, Dias, Patricia, Bertini, Enrico, Maleh, Monique,, Moutard, Marie Laure, Michel Baulac, Marie Laure Moutard, Baulac, Michel, Jérôme Rambaud, Chelly, Jamel, Vincent des Portes, Villard, Laurent, Bahi-Buisson, Nadia, Nadia Bahi-Buisson, Laurent Villard, Poirier, Karine, Specchio, Nicola, Caglayan, Okay   +44 more
core   +1 more source

Polymicrogyria [PDF]

, 2020
  +5 more sources

Levodopa‐Responsive Parkinsonism Preceded by Isolated Upper Limb Tremor Associated with PTEN Variant

Movement Disorders Clinical Practice, EarlyView.
Sacha E. Gandhi, Rekha Siripurapu, Audrey Smith, Christopher Kobylecki   +3 more
wiley   +1 more source

Speech and language in bilateral perisylvian polymicrogyria: a systematic review [PDF]

, 2019
AIM: We aimed to systematically review the speech production, language, and oral function phenotype of bilateral perisylvian polymicrogyria (BPP), and examine the correlation between the topography of polymicrogyria and the severity of speech, language ...
Braden, RO, Morgan, AT, Leventer, RJ, Scheffer, IE, Jansen, A   +4 more
core   +1 more source

Megalencephaly with Polymicrogyria : A Case Report [PDF]

A male infant with bilateral megalencephaly, recognized in the 12th week of gestation, displayed polymicrogyria on magnetic resonance imaging. It is generally accepted that patients with polymicrogyria almost always have microcephaly. The present case is
53312, 53313, 53311, Goto, Kazuya, Maeda, Tomoki, Ogawa, Teruyuki   +5 more
core   +1 more source

Perisylvian Polymicrogyria Epileptic Syndrome

Pediatric Neurology Briefs, 1994
The epileptic spectrum and EEG findings in 31 patients with a congenital bilateral perisylvian syndrome are reported from the University of Alabama at Birmingham and the CBPS Multicenter Collaborative Study Group.
J Gordon Millichap
doaj   +1 more source

Microstructural white matter abnormalities in nodular heterotopia with overlying polymicrogyria

, 2007
SummaryNodular heterotopia (NH) with overlying polymicrogyria can result in medically uncontrolled seizures. Most patients also exhibit deficits of function related to the location of the abnormal cortex. However, functional imaging studies show that the
Bonilha, Leonardo, Li, Li Min, Morgan, Paul, Rumbolt, Zoran, Patel, Ashok, Halford, Jonathan, Rorden, Chris   +6 more
core   +2 more sources