Lissencephaly-1 mutations enhance traumatic brain injury outcomes in Drosophila.

Authors: Katzenberger, Rebeccah J.¹, Ganetzky, Barry², Wassarman, David A.¹, dawassarman@wisc.edu

Source: Genetics; Mar2023, Vol. 223 Issue 3, p1-18, 18p

Lissencephaly: Clinical and neuroimaging features in children.

Alternate Title: Lisencefalia: características clínicas y de neuroimagen en niños.

Authors: Lapo-Córdova, Nathaly S.¹ mdnathalylapoc@gmail.com, Ruiz-García, Matilde¹, Hernández-Antúnez, Blanca G.¹

Source: Revista Mexicana de Neurociencia. Jul/Aug2021, Vol. 22 Issue 4, p134-140. 7p.

Subject Terms: *LISSENCEPHALY, *BRAIN imaging, *CHILD patients, *NEURODEVELOPMENTAL treatment, *GASTROESOPHAGEAL reflux in children

Lissencephaly with subcortical band heterotopia in an East African child: A case report

Authors: Elisamia Ngowi, Adil Datoo, Pilly Ally, Hajaj Salum, Kija Edward

Source: Radiology Case Reports, Vol 20, Iss 1, Pp 480-483 (2025)

Subject Terms: Lissencephaly, Subcortical band heterotopia, Case Report, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043324011750; https://doaj.org/toc/1930-0433

Access URL: https://doaj.org/article/07e98055ee2e42e0a01ec0a551d6ad85

Cobblestone lissencephaly (Type II), clinical, and neuroimaging: A case report and literature review

Authors: Praveen K. Sharma, MD, Stany Jerosha, MBBS, Sakthi Ganesh Subramonian, MBBS, Sam Raja R, MD, Karpagam RK, MBBS

Source: Radiology Case Reports, Vol 19, Iss 11, Pp 4794-4803 (2024)

Subject Terms: Cobblestone lissencephaly, Neurons, Cerebellar hypoplasia, Muscular dystrophies, Magnetic resonance imaging, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043324006290; https://doaj.org/toc/1930-0433

Access URL: https://doaj.org/article/d3f7521b32c24a96ad97b0dc68c18596

KCl-induced cortical spreading depression waves more heterogeneously propagate than optogenetically-induced waves in lissencephalic brain: an analysis with optical flow tools.

Authors: Donmez-Demir, Buket¹, Erdener, Şefik Evren¹ evrenerdener@hacettepe.edu.tr, Karatas, Hulya¹, Kaya, Zeynep¹, Ulusoy, Ilkay², Dalkara, Turgay¹ tdalkara@hacettepe.edu.tr

Source: Scientific Reports. 7/30/2020, Vol. 10 Issue 1, p1-10. 10p.

Subject Terms: *SPREADING cortical depression, *LISSENCEPHALY, *OPTICAL flow, *THEORY of wave motion, *NEUROLOGICAL disorders

TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review

Authors: Tao Yu, Miao Yu, Xueyan Liu, Hua Wang

Source: Frontiers in Pediatrics, Vol 13 (2025)

Subject Terms: TUBGCP2, lissencephaly, genetics, neurodevelopmental disorder, microcephaly, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2025.1476390/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/a51728ed5452403090d388436e6fed56

Walker-Warburg syndrome: A case report of congenital muscular dystrophy with hydrocephalus

Authors: Fawzya Aref, MD, Amin Shaaban, MD, Abouelhassan Ahmed, MD, Maram Gubari, MBBS, Jood Hassan, MBBS, Mussaed Alharbi, MBBS, Kholod Alsubhi, MBBS, Kareem Alsalhi, MBBS, Shama Albalawi, MBBS, Mohamad Ali, MBBS, Hiba Ali, MBBS, Najla Filfilan, MBBS, Elaf Shmailah, MBBS, Attallah Ahmed

Source: Radiology Case Reports, Vol 19, Iss 11, Pp 5063-5065 (2024)

Subject Terms: Cobblestone lissencephaly, Brain malformations, Eye abnormalities, Congenital muscular dystrophy, Walker-Warburg syndrome, Tmem5 gene, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043324007362; https://doaj.org/toc/1930-0433

Access URL: https://doaj.org/article/c1f92fb874984fc4baeeffd55e9ae17e

Ambiguous Genitalia Associated with an Extremely Rare Syndrome: A Case Report of XLAG Syndrome and Review of the Literature.

Authors: GUPTA, Brijnandan¹, RAMTEKE, Prashant¹, PAUL, V. K.², KUMAR, Tarun¹, DAS, Prasenjit¹ prasenaiims@gmail.com

Source: Turkish Journal of Pathology. May2019, Vol. 35 Issue 2, p162-165. 4p.

Subject Terms: *LISSENCEPHALY, *X-linked genetic disorders, *GENITAL abnormalities, *GENITALIA development, *EPILEPSY, CORPUS callosum abnormalities

RAIDD mutations underlie the pathogenesis of thin lissencephaly (TLIS).

Authors: Ha, Hyun Ji¹, Park, Hyun Ho¹

Source: PLoS ONE. 10/3/2018, Vol. 13 Issue 10, p1-13. 13p.

Subject Terms: *LISSENCEPHALY, *BRAIN abnormalities, *INTELLECTUAL disabilities, *CARCINOGENESIS, *NEURAL development, *MOLECULAR structure, *CELL death

Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder.

Authors: García-Ortiz, José E.¹, Zarazúa-Niño, Ana I.², Hernández-Orozco, Angélica A.¹, Reyes-Oliva, Edwin A.², Pérez-Ávila, Carlos E.³, Becerra-Solano, Luis E.⁴, Galán-Huerta, Kame A.², Rivas-Estilla, Ana M.², Córdova-Fletes, Carlos², carlos.cordovafl@uanl.edu.mx

Source: Journal of Autism & Developmental Disorders; Jun2020, Vol. 50 Issue 6, p2247-2251, 5p, 1 Chart, 1 Graph

Altered thalamocortical tract trajectory growth with undisrupted thalamic parcellation pattern in human lissencephaly brain at mid-gestational stage

Authors: Sheng-Min Huang, Kuan-Hung Cho, Koping Chang, Pei-Hsin Huang, Li-Wei Kuo

Source: Neurobiology of Disease, Vol 199, Iss , Pp 106577- (2024)

Subject Terms: Diffusion MRI tractography, Tractography-based parcellation, Formalin-fixed postmortem human fetal brain, Lissencephaly, Thalamo-cortical tract growth with cortical plate invasion, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996124001773; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/4bd5ac58cadb4ee287fb3220e59db953

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.

Authors: González-Morón, Dolores^1,2 doloresgm@gmail.com, Vishnopolska, Sebastián^3,4, Consalvo, Damián⁵, Medina, Nancy¹, Marti, Marcelo^3,4, Córdoba, Marta^1,2, Vazquez-Dusefante, Cecilia¹, Claverie, Santiago⁵, Rodríguez-Quiroga, Sergio Alejandro¹, Vega, Patricia¹, Silva, Walter⁶, Kochen, Silvia⁷, Kauffman, Marcelo Andrés^1,8

Source: PLoS ONE. 9/27/2017, Vol. 12 Issue 9, p1-14. 14p.

Subject Terms: *SOMATIC mutation, *LISSENCEPHALY, *GERM cells, *NEURONS, *CEREBRAL cortex development, *DISEASES

Lissencephaly-1 dependent axonal retrograde transport of L1-type CAM Neuroglian in the adult drosophila central nervous system.

Authors: Kudumala, Sirisha R.¹, Penserga, Tyrone¹, Börner, Jana¹, Slipchuk, Olesya¹, Kakad, Priyanka¹, Lee, LaTasha H.¹, Qureshi, Aater², Pielage, Jan³, Godenschwege, Tanja A.¹ godensch@fau.edu

Source: PLoS ONE. 8/24/2017, Vol. 12 Issue 8, p1-22. 22p.

Subject Terms: *LISSENCEPHALY, *DROSOPHILA, *CELL nuclei, *DYNEIN, *DYNACTIN

Coexisting Congenital Mesoblastic Nephroma and Lissencephaly: Unique Case Report with Pathological Analysis and Its Clinical Significance

Authors: Hristina Zakić, Olivera Kontić Vučinić, Jelena Stamenković, Jovan Jevtić, Milena Perišić Mitrović, Maja Životić

Source: Biomedicines, Vol 13, Iss 1, p 196 (2025)

Subject Terms: congenital mesoblastic nephroma, lissencephaly, pachygyria, prenatal course, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9059/13/1/196; https://doaj.org/toc/2227-9059

Access URL: https://doaj.org/article/abe5438809e540dca43128108290d837

Höchste Priorität für „Corona-Schutzimpfung" eines schwerbehinderten Kindes.

Alternate Title: Highest priority for "Corona vaccination" one severely disabled child.

Source: GesR: Gesundheitsrecht. Apr2021, Vol. 20 Issue 4, p239-244. 6p.

Subject Terms: *COVID-19 vaccines, Lissencephaly, Epilepsy, Respiratory infections, Catecholamines

Lissencephaly caused by a de novo mutation in tubulin TUBA1A: a case report and literature review

Authors: Sijing Ren, Yu Kong, Ruihan Liu, Qiubo Li, Xuehua Shen, Qing-Xia Kong

Source: Frontiers in Pediatrics, Vol 12 (2024)

Subject Terms: tubulinopathies, TUBA1A mutation, lissencephaly, epilepsy, neuronal migration, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1367305/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/c6bd7e6b0eaf4deca92469b873a79b26

Visual Impairment Due to Lissencephaly.

Authors: Marqués-Fernández, V. E.¹ (AUTHOR) maria.gciazamora@gmail.com, Sánchez-Tocino, H.² (AUTHOR), Escudero-Caro, M.T.³ (AUTHOR), Cancho-Candela, R.⁴ (AUTHOR), García-Zamora, M.¹ (AUTHOR)

Source: Neuro-Ophthalmology. Oct2016, Vol. 40 Issue 5, p229-233. 5p.

Subject Terms: *VISION disorders in children, *LISSENCEPHALY, *INTELLECTUAL disabilities, *EPILEPSY, *CORTICAL blindness, *NEUROLOGICAL disorders

Lissencephaly-pachygyria and cerebellar hypoplasia in a calf.

Alternate Title: Lisencefalia-paquigiria e hipoplasia cerebelar em um bovino.

Authors: dos Santos, Bianca Lemos¹, Florisbal Damé, Maria Cecília², Barreto Coelho, Ana Carolina¹, Oliveira, Plínio Aguiar¹, Marcolongo-Pereira, Clairton³, Schild, Ana Lucia⁴ alschil@terra.com.br

Source: Ciência Rural. set2016, Vol. 46 Issue 9, p1622-1628. 7p.

Subject Terms: *LISSENCEPHALY, *CEREBELLUM abnormalities, *CALVES, *EUTHANASIA of animals, *AUTOPSY, *GRAY matter (Nerve tissue)

In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations.

Authors: Yohei Bamba^1,2, Tomoko Shofuda³, Mitsuhiro Kato⁴, Pooh, Ritsuko K.⁵, Yoko Tateishi⁶, Jun-ichi Takanashi⁷, Hidetsuna Utsunomiya⁸, Miho Sumida², Daisuke Kanematsu², Hiroshi Suemizu⁹, Yuichiro Higuchi⁹, Wado Akamatsu¹, Denis Gallagher^10,11,12, Miller, Freda D.^10,12,13, Mami Yamasaki^14,15, Yonehiro Kanemura^2,16, Hideyuki Okano¹ hidokano@a2.keio.jp

Source: Molecular Brain. 7/19/2016, Vol. 9, p1-14. 14p.

Subject Terms: *LISSENCEPHALY, *HUMAN abnormalities, *CONGENITAL disorders, *ETIOLOGY of diseases, *PEDIATRICS, *INDUCED pluripotent stem cells

Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence.

Authors: Satoru Takahashi¹ satoru5p@asahikawa-med.ac.jp, Ryosuke Tanaka¹, Satomi Okano¹, Akie Okayama¹, Nao Suzuki¹, Hiroshi Azuma¹

Source: Molecular Cytogenetics (17558166). 10/31/2015, Vol. 8, p1-6. 6p.

Subject Terms: *LISSENCEPHALY, *FACIAL abnormalities, *CHROMOSOMES, *MOLECULAR weights, *CELL motility, *MOLECULAR motor proteins, *NEURAL development