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About 183 results

ALLMedicine™ Pachygyria Center

Research & Reviews  71 results

Novel finding of lissencephaly and severe osteopenia in a Chinese patient with SATB2-as...
https://doi.org/10.1002/ajmg.a.62732
American Journal of Medical Genetics. Part A; Lo HY, Ng WF et. al.

Mar 23rd, 2022 - SATB2-associated syndrome (SAS) is a rare disorder characterized by developmental delay, behavioral problems, and craniofacial anomalies in particular dental and palatal abnormalities. We describe the clinical course, genetic and autopsy findings ...

Posterior Quadrant Disconnection for Childhood Onset Sub-Hemispheric Posterior Head Reg...
https://doi.org/10.1159/000519202
Pediatric Neurosurgery; Kadam R, Arimappamagan A et. al.

Oct 15th, 2021 - Posterior quadrant disconnection (PQD) is an under-utilized surgical technique in the management of refractory epilepsy. There is a dearth of data pertinent to post-PQD seizure outcomes. This retrospective study analyzed patients with drug-resista...

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8385073
European Journal of Human Genetics : EJHG; Zaki MS, Accogli A et. al.

Jun 25th, 2021 - The PIDDosome is a multiprotein complex, composed by the p53-induced death domain protein 1 (PIDD1), the bipartite linker protein CRADD (also known as RAIDD) and the proform of caspase-2 that induces apoptosis in response to DNA damage. In the rec...

Two cases of DYNC1H1 mutations with intractable epilepsy.
https://doi.org/10.1016/j.braindev.2021.05.005
Brain & Development; Matsumoto A, Kojima K et. al.

Jun 8th, 2021 - The DYNC1H1 gene encodes the heavy chain of cytoplasmic dynein 1, a core structure of the cytoplasmic dynein complex. Dominant DYNC1H1 mutations are implicated in Charcot-Marie-Tooth disease, axonal, type 20, spinal muscular atrophy, lower extremi...

Compound heterozygous variants in LAMC3 in association with posterior periventricular n...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7916305
BMC Medical Genomics; De Angelis C, Byrne AB et. al.

Mar 1st, 2021 - Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights...

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News  2 results

Radiologists Show Zika Effects Extend Beyond Microcephaly
https://www.staging.medscape.com/viewarticle/872635

Dec 1st, 2016 - CHICAGO — Zika infection can have devastating effects on the central nervous system beyond microcephaly, and can cause a wide range of brain abnormalities, including paralysis and death in adults, according to two new studies from Brazil. The two ...

Radiologists Show Zika Effects Extend Beyond Microcephaly
https://www.medscape.com/viewarticle/872635

Dec 1st, 2016 - CHICAGO — Zika infection can have devastating effects on the central nervous system beyond microcephaly, and can cause a wide range of brain abnormalities, including paralysis and death in adults, according to two new studies from Brazil. The two ...

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