Cargando…

Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration

OBJECTIVE: We aimed to delineate the distribution of periventricular nodular heterotopia (PNH) in patients with 22q11.2 microdeletion syndrome (22q11.2DS) and place this in the context of other genetic forms of PNH. METHODS: We retrospectively analyzed brain imaging and postmortem data available for...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rezazadeh, Arezoo, Bercovici, Eduard, Kiehl, Tim‐Rasmus, Chow, Eva W., Krings, Timo, Bassett, Anne S., Andrade, Danielle M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6243376/ https://www.ncbi.nlm.nih.gov/pubmed/30480026 http://dx.doi.org/10.1002/acn3.641

Ejemplares similares

Periventricular nodular heterotopia in a Chihuahua
por: Herkommer, Leonie F., et al.
Publicado: (2020)

X-linked Bilateral Periventricular Nodular Heterotopia
por: Thonissen, Yannick, et al.
Publicado: (2020)

Germline mosaicism in X-linked periventricular nodular heterotopia
por: LaPointe, Monique M, et al.
Publicado: (2014)

47 patients with FLNA associated periventricular nodular heterotopia
por: Lange, Max, et al.
Publicado: (2015)

Three Generations of FLNA-Associated Periventricular Nodular Heterotopia
por: Eisenbiegler, Grace E., et al.
Publicado: (2021)

Localized activity alternations in periventricular nodular heterotopia‐related epilepsy
por: Liu, Wenyu, et al.
Publicado: (2023)

A Rare Cause of Refractory Epilepsy: Posterior Periventricular Nodular Heterotopia
por: Direk, Meltem C., et al.
Publicado: (2018)

Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia
por: Hiromoto, Yoshitaka, et al.
Publicado: (2020)

The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia
por: Lu, Yan-Ting, et al.
Publicado: (2022)

Resting-state functional connectivity alterations in periventricular nodular heterotopia related epilepsy
por: Liu, Wenyu, et al.
Publicado: (2019)

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly
por: Stouffs, Katrien, et al.
Publicado: (2020)

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia
por: De Angelis, Carla, et al.
Publicado: (2021)

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia
por: Heinzen, Erin L., et al.
Publicado: (2018)

Integrity of the corpus callosum in patients with periventricular nodular heterotopia related epilepsy by FLNA mutation
por: Liu, Wenyu, et al.
Publicado: (2017)

A Novel Mutation of Filamin A Gene in a Chinese Family with Periventricular Nodular Heterotopia
por: Zhou, Wei-Dong, et al.
Publicado: (2016)

Filamin A Gene Associated Periventricular Nodular Heterotopia and Epilepsy in a Cohort of Chinese Patients
por: Liu, Wen-Yu, et al.
Publicado: (2017)

Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report
por: Pecimonova, Martina, et al.
Publicado: (2021)

Human periventricular nodular heterotopia shows several interictal epileptic patterns and hyperexcitability of neuronal firing
por: Frazzini, Valerio, et al.
Publicado: (2022)

Surgical treatment of epilepsy in a patient with bilateral periventricular nodular heterotopia: A case report
por: Kim, Sergey Afanasievich, et al.
Publicado: (2023)

Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures
por: Elbracht, Miriam, et al.
Publicado: (2018)

Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review
por: Yang, Lin, et al.
Publicado: (2023)

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy
por: Farhan, Sali M K, et al.
Publicado: (2017)

Bipolar disorder with Melnick–Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature
por: Riccio, Maria Pia, et al.
Publicado: (2021)

A somatic mutation in MEN1 gene detected in periventricular nodular heterotopia tissue obtained from depth electrodes
por: Montier, Laura, et al.
Publicado: (2019)

Periventricular nodular heterotopia, frontonasal encephalocele, corpus callosal dysgenesis and arachnoid cyst: A constellation of abnormalities in a child with epilepsy
por: Krishnan, Prasad, et al.
Publicado: (2014)

Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia
por: Broix, Loïc, et al.
Publicado: (2016)

Teaching NeuroImage: New Pattern of Periventricular Nodular Heterotopia in Twins With a Pathogenic Variant in the MAP1B Gene
por: Xue, Huihui, et al.
Publicado: (2023)

Long term seizure freedom on perampanel in highly drug-resistant epilepsy caused by bilateral periventricular nodular heterotopia: A case report
por: Kiyose, Makoto, et al.
Publicado: (2019)

Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema
por: Tanner, Laura M., et al.
Publicado: (2022)

Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary
por: Liu, Juan, et al.
Publicado: (2023)

Massive obesity and hyperphagia in posterior bilateral periventricular heterotopias: case report
por: Guglielmi, Valeria, et al.
Publicado: (2016)

Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers–Danlos syndrome
por: Savasta, Salvatore, et al.
Publicado: (2015)

Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia
por: Gerlevik, Umut, et al.
Publicado: (2022)

Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication
por: Jones, Kevin, et al.
Publicado: (2016)

Obesity in adults with 22q11.2 deletion syndrome
por: Voll, S, et al.
Publicado: (2016)

A 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami
por: Fauntleroy-Love, Kristin D., et al.
Publicado: (2023)

Periventricular Heterotopia: Shuttling of Proteins through Vesicles and Actin in Cortical Development and Disease
por: Sheen, Volney L.
Publicado: (2012)

Cytoskeletal proteins in cortical development and disease: actin associated proteins in periventricular heterotopia
por: Lian, Gewei, et al.
Publicado: (2015)

Metformin rescues migratory deficits of cells derived from patients with periventricular heterotopia
por: Bressan, Cedric, et al.
Publicado: (2023)

MRI Findings of Coexistence of Ectopic Neurohypophysis, Corpus Callosum Dysgenesis, and Periventricular Neuronal Heterotopia
por: Arslan, Harun, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_81nd6lh3rsjrbv11uf6fjfek1n