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Page 1
Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study.
Howe DT, Rankin J, Draper ES. Howe DT, et al. Ultrasound Obstet Gynecol. 2012 Jan;39(1):75-82. doi: 10.1002/uog.9069. Epub 2011 Dec 5. Ultrasound Obstet Gynecol. 2012. PMID: 21647999 Free article.
OBJECTIVES: To establish the prevalence and antenatal diagnosis of schizencephaly in the UK. METHODS: Data on schizencephaly were extracted from six regional congenital anomaly registers. RESULTS: Thirty-eight cases of schizencephaly were identified in 2 567 …
OBJECTIVES: To establish the prevalence and antenatal diagnosis of schizencephaly in the UK. METHODS: Data on schizencephaly w …
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.
Infantile spasms are a frequent early manifestation of TS. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, including focal epilepsy in most patients. ...However, at present, there is no clear indication on the possible pattern of inheritance and on the p …
Infantile spasms are a frequent early manifestation of TS. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, includi …
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.
Infantile spasms are a frequent early manifestation of TS. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, including focal epilepsy in most patients. ...However, at present, there is no clear indication on the possible pattern of inheritance and on the p …
Infantile spasms are a frequent early manifestation of TS. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, includi …
Prenatal cranial MR findings in fetuses with suspected CMV infection: Correlation with postnatal outcome and differential diagnostic considerations.
Goergen S, Lim Z, Clark J, Teoh M, Humnabadkar K, Fahey M, Giles M. Goergen S, et al. J Med Imaging Radiat Oncol. 2020 Dec;64(6):769-778. doi: 10.1111/1754-9485.13083. Epub 2020 Jul 27. J Med Imaging Radiat Oncol. 2020. PMID: 32741149
Three deaths were due to toxoplasmosis (n = 1), TOP for severe ventriculomegaly (n = 1) and bilateral schizencephaly (n = 1). CONCLUSIONS: Polymicrogyria in fetuses with cCMV, undetected with prenatal US, was associated with CP. ...
Three deaths were due to toxoplasmosis (n = 1), TOP for severe ventriculomegaly (n = 1) and bilateral schizencephaly (n = 1). CONCLUS …
Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis.
Vinurel N, Van Nieuwenhuyse A, Cagneaux M, Garel C, Quarello E, Brasseur M, Picone O, Ferry M, Gaucherand P, des Portes V, Guibaud L. Vinurel N, et al. Ultrasound Obstet Gynecol. 2014 Mar;43(3):346-52. doi: 10.1002/uog.12498. Epub 2014 Jan 2. Ultrasound Obstet Gynecol. 2014. PMID: 23640781 Free article.
In 10 cases there were associated anatomical anomalies, including mainly midline anomalies (syntelencephaly (n=2), lobar holoprosencephaly (n=1), Aicardi syndrome (n=2)), but also schizencephaly (n=1), cortical dysplasia (n=1) and more complex cerebral malformations (n=3), …
In 10 cases there were associated anatomical anomalies, including mainly midline anomalies (syntelencephaly (n=2), lobar holoprosencephaly ( …
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.
Arnold GL, Salazar D, Neidich JA, Suwannarat P, Graham BH, Lichter-Konecki U, Bosch AM, Cusmano-Ozog K, Enns G, Wright EL, Lanpher BC, Owen NN, Lipson MH, Cerone R, Levy P, Wong LJ, Dezsofi A. Arnold GL, et al. Mol Genet Metab. 2012 Aug;106(4):439-41. doi: 10.1016/j.ymgme.2012.04.006. Epub 2012 Apr 20. Mol Genet Metab. 2012. PMID: 22658692
Developmental outcome included several children with mental retardation (including one with Down syndrome and one with schizencephaly) and two with Autism Spectrum disorders but there was no apparent relationship to residual enzyme activity. ...
Developmental outcome included several children with mental retardation (including one with Down syndrome and one with schizencephaly …
Sudden Unexpected Death in Epilepsy: A Report of Three Commonly Encountered Anatomic Findings in the Forensic Setting With Recommendations for Best Practices.
Jordan RD, Coscia M, Lantz P, Harrison W. Jordan RD, et al. Am J Forensic Med Pathol. 2022 Sep 1;43(3):259-262. doi: 10.1097/PAF.0000000000000773. Epub 2022 May 28. Am J Forensic Med Pathol. 2022. PMID: 35642769
In this case series, we report 3 previously undiagnosed structural causes of SUDEP discovered at autopsy at our institution including schizencephaly, ganglioglioma, and focal cortical dysplasia. Our major recommendation is in cases with suspected SUDEP, formal neuropatholo …
In this case series, we report 3 previously undiagnosed structural causes of SUDEP discovered at autopsy at our institution including sch …