Results 91 to 100 of about 8,041 (202)

PAFAH1B1 haploinsufficiency disrupts GABA neurons and synaptic E/I balance in the dentate gyrus

Scientific Reports, 2017
Hemizygous mutations in the human gene encoding platelet-activating factor acetylhydrolase IB subunit alpha (Pafah1b1), also called Lissencephaly-1, can cause classical lissencephaly, a severe malformation of cortical development.
Matthew T. Dinday, Kelly M. Girskis, Sunyoung Lee, Scott C. Baraban, Robert F. Hunt   +4 more
doaj   +1 more source

Molecular Genetics of Lissencephaly and Functions of LIS1 in Cell Division [PDF]

, 2012
Lissencephaly (smooth brain) is a brain malformation disorder resulted from defective neuronal migration during early development. Deletion or mutation of many genes involved in the regulation of the microtubule (MT) and actin cytoskeletons have been ...
Moon, Hyang Mi
core  

Tc-99-HmPAO SPECT in 13 patients with classic lissencephaly

, 2000
In this study, technetium-99 (Tc-99)-hexamethylpropyleneamine-oxine single-photon emission computed tomography (SPECT) was performed on 13 children with classic lissencephaly (nine with epileptic seizures, four without seizures).
Unal, S, Minareci, O, Ozmen, M, Adalet, I, Aydmli, N, Caliskan, M, Yilmaz, Y   +6 more
core   +1 more source

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.

Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a range of ...
Mane, Shrikant, Kaymakcalan, Hande, Narayanan, Anand, Sestan, Nenad, Koroglu, Merve Nur, Ercan-Sencicek, A. Gulhan, Caglar, Caner, Wang, Guilin, Takeo, Yutaka, Lopez-Giraldez, Francesc, Cortes, Joelly, Bulut, Aybike S., Yalcinkaya, Cengiz, Nishimura, Sayoko, Barak, Tanyeri, Yasuno, Katsuhito, Liang, Dan, Tuysuz, Beyhan, Lam, TuKiet T., Guzel, Aslan, Miyagishima, Danielle F., Henegariu, Octavian, Wang, Xinyuan, Mishra-Gorur, Ketu, Erson-Omay, E. Zeynep, Peksen, A. Buket, Louvi, Angeliki, Bilguvar, Kaya, Zhang, Ce, Caglayan, AHMET OKAY, Gunel, Murat, Cheng, Iris Q., Caglayan, A. Okay, Bilguvar K., AO, Caglayan, Barak T, Mishra-Gorur K, Wang G, Gunel M, EZ, Erson-Omay, Liang D, Lam TT, Narayanan A, Nishimura S, Wang X, Zhang C, DF, Miyagishima, Bulut AS, Tuysuz B, Koroglu MN, Peksen AB, Louvi A, Erson-Omay EZ, MN, Koroglu, AB, Peksen, Mane S, AS, Bulut, Henegariu O, Ercan-Şençiçek, Adife Gülhan, Miyagishima DF, Takeo Y, Sestan N, AG, Ercan-Sencicek, IQ, Cheng, Yalcinkaya C, Yasuno K, TT, Lam, Guzel A, Cheng IQ, Kaymakcalan H, Caglayan AO, Ercan-Sencicek AG, Caglar C, Lopez-Giraldez F, Cortes J   +74 more
core   +1 more source

Lissencephaly type II

, 2007
Publisher Summary Lissencephaly type II is a group of complex brain malformations that anatomically consists of “cobblestone” cortex, abnormal white matter, enlarged ventricles, small brainstem, hypoplastic vermis, and cerebellar polymicrogyria. The spectrum varies from a mild disorganization of the brain layers to severely dysplastic brains.
TALİM, BERİL, Topaloglu, Haluk
openaire   +3 more sources

X-Linked Lissencephaly with ARX Mutations, Abnormal Genitalia, and Corpus Callosum Agenesis

, 2003
The clinical and genetic findings of two X-linked lissencephaly with abnormal genitalia (XLAG) pedigrees with ARX mutations are reported from the University of Regensburg ...
J Gordon Millichap, Millichap, J. Gordon
core   +1 more source

Walker-Warburg syndrome: report of two cases

Arquivos de Neuro-Psiquiatria, 1999
The purpose of this study is to describe two infants that were diagnosed with Walker-Warburg syndrome (WWS), a rare form of congenital muscular dystrophy (CMD).They were studied in their clinical, laboratory, and neuroradiologic features.
VASCONCELOS MARCIO M., GUEDES CÁSSIA R., DOMINGUES ROMEU C., VIANNA RAUL N. G., SOTERO MARCIO, VIEIRA MÔNICA M.   +5 more
doaj  

Infantile epileptic spasms syndrome in a child with lissencephaly associated with de novo PAFAH1B1 variant and coincidental CMV infection

Epilepsy & Behavior Reports
Type 1 lissencephaly is a brain malformation characterized by agyria and pachygyria and is known to be caused by congenital infections and genetic variations.
Nga Ying Eng, Duyu A. Nie
doaj   +1 more source

A lissencephaly-associated BAIAP2 variant causes defects in neuronal migration during brain development [PDF]

peer reviewedLissencephaly is a neurodevelopmental disorder characterized by a loss of brain surface convolutions caused by genetic variants that disrupt neuronal migration.
Hsieh, M.-Y., Cheng, Haw-Yuan, Tsai, J.-W., Chen, S.-Y., Tsai, M.-H., Tung, C.-Y., Hsu, C.-H., Hung, S.-S., Hou, P.-S., Lin, W.-C., Nian, Fang-Shin, Lee, M.-H., Zhao, H.-J.   +12 more
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Clinical case of the month. Miller-Dieker (lissencephaly) syndrome [PDF]

, 2007
We present the case of a 10-year-old boy who presents with a severe epilepsy resistant to medical treatment in the context of a Miller-Dieker syndrome. This patient underwent the implantation of a pneumogastric nerve stimulator. We describe the patient's
Scholtes, Félix, Cremers, Julien, Scholsem, Martin, Riekel, Irène, Martin, Didier   +4 more
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