Results 91 to 100 of about 3,402 (231)

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly [PDF]

, 2023
Lissencephaly (LIS) is a malformation of cortical development due to deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. Thirty-one LIS-associated genes have been previously described.
Bakhshoodeh, Behnoosh, Boute, Odile, Esen, Fatma Nisa, Geylan Durgun, Dilan Ece, Ghayoor Karimiani, Ehsan, Hashemi, Narges, Kim, Hyung Goo, Mancılar, Hanifenur, Maroofian, Reza, Moghbeli, Meysam, Smol, Thomas, Sonmez, F Mujgan, Tümer, Sait, Uctepe, Eyyup, Vona, Barbara, Yesilyurt, Ahmet   +15 more
core  

Partial agenesis of the corpus callosum: Prenatal ultrasound characteristics, associations, and outcome

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 7, Page 1304-1317, July 2025.
Abnormal cavum septi pellucidi is the most common indirect sign of partial agenesis of corpus callosum (pACC). A cystic mass in the midline that communicates with the third ventricle may be an indirect sign of pACC. PACC is highly associated with intra‐ and extracranial malformations.
Changrong Zhou, Hezhou Li, Ruizheng Han, Hongrui Ren, Bin Shen, Xinxia Wang, Fangfang Feng, Mengmeng Wang, Ling Liu   +8 more
wiley   +1 more source

Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti: A case report, literature review and insight into pathogenesis [PDF]

, 2018
Case presentation: A substance abusing G2P1 mother spontaneously delivered at term an appropriate for gestational age girl. Neonatal seizures appeared at 21hours and empiric anticonvulsive and antimicrobial treatment was started.
Gardiner, Jane, Kaczala, Gregor, Messer, Manuela, Poskitt, Ken, Prendiville, Juliette, Senger, Christof   +5 more
core  

Cytomegalic parvalbumin neurons in fetal cases of hemimegalencephaly

Epilepsia, Volume 66, Issue 6, Page 2099-2109, June 2025.
Abstract Objective Mutations in genes of the mTOR pathway have been identified as a major cause of hemimegalencephaly (HMG), focal cortical dysplasia type II, and tuberous sclerosis, cortical malformations associated with epilepsy. These conditions are characterized at the cellular level by increased size of pyramidal neurons that grow with dysmorphic ...
Antoinette‐Bernabe Gelot, Tangra Ondina Draia‐Nicolau, Rémi Mathieu, Lucas Silvagnoli, Françoise Watrin, Carlos Cardoso, Jean‐Bernard Manent, Antoine de Chevigny, Alfonso Represa   +8 more
wiley   +1 more source

Prenatal Diagnosis of Proteus Syndrome: About a Case

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Proteus syndrome (PS) is a rare disorder (< 1/1000000), marked by progressive overgrowth commonly impacting the skeleton, skin, adipose tissue, and central nervous system. Clinical criteria were established in 2019. PS arises from a somatic activating variation in the AKT1 gene.
Luana Giovannangeli, Virginie Magry, Florence Jobic, Kahia Messaoudi, Walaa Darwiche, Marianne Perriere, Alexis Billes, Ségolène Delmas Lanta, Alice Masurel, Gilles Morin, Guillaume Jedraszak   +10 more
wiley   +1 more source

Neuronal migration disorders

Neurobiology of Disease, 2010
Lissencephaly–pachygyria-severe band heterotopia are diffuse neuronal migration disorders (NMDs) causing severe, global neurological impairment. Abnormalities of the LIS1, DCX, ARX, TUBA1A and RELN genes have been associated with these malformations ...
Renzo Guerrini, Elena Parrini
doaj   +1 more source

Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series

American Journal of Medical Genetics Part A, Volume 197, Issue 3, March 2025.
ABSTRACT Heterozygous de novo loss of function variants in the motor domain of KIF5C are associated with a neurodevelopmental disorder characterized by infantile‐onset epilepsy, frontal cortical dysplasia, and developmental delays including motor and speech impairments. Previously, only three missense variants in KIF5C were known to be pathogenic.
Sara Gracie, Prasannakumar Deshpande, Patrik Hollos, Karl De Dios, Donna M. Martin, Amanda B. Pritchard, Jessica A. Scott Schwoerer, Meghan R. Behrmann, Laurie H. Seaver, Kathleen Brown, Raymond J. Fernandez, Austin Larson, Eleanor Coffey   +12 more
wiley   +1 more source

Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts. [PDF]

, 2016
BackgroundIn children, frequent congenital malformations with concomitant agenesis of the corpus callosum are diagnosed by neuroimaging in association with other cerebral malformations, including interhemispheric cysts and ventriculomegaly.
Creighton, EK, Keating, MK, Lyons, LA, Sisó, S, Sturges, BK, Wisner, ER   +5 more
core  

Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies [PDF]

, 2015
Background. Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of perceptual and linguistic capabilities.
Aimoni, C, Busi, M, Calzolari, F, Castiglione, Alessandro, Granieri, E, Martini, Alessandro, Minazzi, F, Rosignoli, M, Trevisi, Patrizia   +8 more
core   +4 more sources

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder

Clinical Genetics, Volume 107, Issue 3, Page 311-322, March 2025.
We report two unrelated families with biallelic variants in LRRC45 and show impaired ciliogenesis in patient cells. We propose that defects in LRRC45 lead to a novel subtype of ciliopathy with developmental abnormalities of the brain. Taken together this study adds to a growing body of evidence for the physiological relevance of distal appendage ...
Periyasamy Radhakrishnan, Neha Quadri, Florian Erger, Nico Fuhrmann, Otilia‐Maria Geist, Christian Netzer, Ibakordor Khyriem, Mamta Muranjan, Vrajesh Udani, Mayuri Yeole, Selinda Mascarenhas, Sanket Limaye, Shahyan Siddiqui, Priyanka Upadhyai, Anju Shukla   +14 more
wiley   +1 more source