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Year Number of Results
1993 1
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2005 2
2006 2
2007 2
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2013 3
2018 1
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28 results

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Page 1
Lissencephaly: Update on diagnostics and clinical management.
Koenig M, Dobyns WB, Di Donato N. Koenig M, et al. Eur J Paediatr Neurol. 2021 Nov;35:147-152. doi: 10.1016/j.ejpn.2021.09.013. Epub 2021 Oct 7. Eur J Paediatr Neurol. 2021. PMID: 34731701 Review.
Lissencephaly represents a spectrum of rare malformations of cortical development including agyria, pachygyria and subcortical band heterotopia. The progress in molecular genetics has led to identification of 31 lissencephaly-associated genes with the overall diagno …
Lissencephaly represents a spectrum of rare malformations of cortical development including agyria, pachygyria and subcortical band h …
Neonatal epilepsies: Clinical management.
Cornet MC, Sands TT, Cilio MR. Cornet MC, et al. Semin Fetal Neonatal Med. 2018 Jun;23(3):204-212. doi: 10.1016/j.siny.2018.01.004. Epub 2018 Jan 31. Semin Fetal Neonatal Med. 2018. PMID: 29426806 Review.
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-onset epilepsy, often linked to a pathogenic genetic variant. This defect may disrupt cortical development (e.g., lissencephaly, focal …
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-o …
Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results.
Zhang YL, Jing XY, Zhen L, Pan M, Han J, Li DZ. Zhang YL, et al. Eur J Obstet Gynecol Reprod Biol. 2022 Jul;274:28-32. doi: 10.1016/j.ejogrb.2022.04.025. Epub 2022 May 6. Eur J Obstet Gynecol Reprod Biol. 2022. PMID: 35567955
OBJECTIVE: To present the experience on prenatal diagnosis of Miller-Dieker syndrome (MDS)/PAFAH1B1-related lissencephaly to further determine fetal phenotypes of this syndrome. ...CONCLUSION: The prenatal presentation of MDS/PAFAH1B1-related lissencephaly depended …
OBJECTIVE: To present the experience on prenatal diagnosis of Miller-Dieker syndrome (MDS)/PAFAH1B1-related lissencephaly to further …
Prenatal diagnosis of rare genetic conditions at a tertiary care hospital in Karachi.
Karim K, Dileep D, Munim S. Karim K, et al. J Pak Med Assoc. 2020 Apr;70(4):724-727. doi: 10.5455/JPMA.11601. J Pak Med Assoc. 2020. PMID: 32296222 Free article.
This study aims to observe the spectrum of Prenatal Diagnosis of Rare Genetic conditions at a Tertiary care hospital in Karachi. This is a retrospective review conducted at the Aga Khan University Hospital, Karachi from January 2016 to July 2018. ...Integrated care …
This study aims to observe the spectrum of Prenatal Diagnosis of Rare Genetic conditions at a Tertiary care hospital in Karachi. This …
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered.
Leventer RJ. Leventer RJ. J Child Neurol. 2005 Apr;20(4):307-12. doi: 10.1177/08830738050200040701. J Child Neurol. 2005. PMID: 15921231 Review.
Lissencephaly and subcortical band heterotopia are closely related cortical malformations and are true disorders of neuronal migration. The genetic basis of approximately 70% of classic lissencephaly and 80% of typical subcortical band heterotopia is known. ...
Lissencephaly and subcortical band heterotopia are closely related cortical malformations and are true disorders of neuronal migratio …
X-linked neuronal migration disorders: Gender differences and insights for genetic screening.
Edey J, Soleimani-Nouri P, Dawson-Kavanagh A, Imran Azeem MS, Episkopou V. Edey J, et al. Int J Dev Neurosci. 2023 Nov;83(7):581-599. doi: 10.1002/jdn.10290. Epub 2023 Aug 13. Int J Dev Neurosci. 2023. PMID: 37574439 Review.
In this review, we aim to highlight X-linked NMDs including lissencephaly, periventricular nodular heterotopia and polymicrogyria because of their mostly familial inheritance pattern. ...
In this review, we aim to highlight X-linked NMDs including lissencephaly, periventricular nodular heterotopia and polymicrogyria bec …
Etiological classification of CNS malformations: integration of molecular genetic and morphological criteria.
Sarnat HB, Flores-Sarnat L. Sarnat HB, et al. Epileptic Disord. 2003 Sep;5 Suppl 2:S35-43. Epileptic Disord. 2003. PMID: 14617419 Free article. Review.
Many cerebral malformations previously thought to be a single disorder are now known to be common end-results of several independent genetic mutations. Examples are holoprosencephaly and lissencephaly. Gradients of genetic expression along the axes of the neural tube, esta …
Many cerebral malformations previously thought to be a single disorder are now known to be common end-results of several independent genetic …
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Guerrini R, Carrozzo R. Guerrini R, et al. Seizure. 2002 Apr;11 Suppl A:532-43; quiz 544-7. Seizure. 2002. PMID: 12185771 Review.
They account for about 85% of all licence-phalies. Lissencephaly with posteriorly predominant gyral abnormality is caused by mutations of the LIS1 gene on chromosome 17. ...With few exceptions, children with lissencephaly have severe developmental delay and infantil …
They account for about 85% of all licence-phalies. Lissencephaly with posteriorly predominant gyral abnormality is caused by mutation …
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Guerrini R, Carrozzo R. Guerrini R, et al. Seizure. 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. Seizure. 2001. PMID: 11749114 Free article. Review.
They account for about 85% of all lissencephalies. Lissencephaly with posteriorly predominant gyral abnormality is caused by mutations of the LIS1 gene on chromosome 17. ...With few exceptions, children with lissencephaly have severe developmental delay and infantil …
They account for about 85% of all lissencephalies. Lissencephaly with posteriorly predominant gyral abnormality is caused by mutation …
28 results