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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy"
Page 1
KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.
Borlot F, Abushama A, Morrison-Levy N, Jain P, Puthenveettil Vinayan K, Abukhalid M, Aldhalaan HM, Almuzaini HS, Gulati S, Hershkovitz T, Konanki R, Lingappa L, Luat AF, Shafi S, Tabarki B, Thomas M, Yoganathan S, Alfadhel M, Arya R, Donner EJ, Ehaideb SN, Gowda VK, Jain V, Madaan P, Myers KA, Otsubo H, Panda P, Sahu JK, Sampaio LPB, Sharma S, Simard-Tremblay E, Zak M, Whitney R. Borlot F, et al. Epilepsia. 2020 Apr;61(4):679-692. doi: 10.1111/epi.16480. Epub 2020 Mar 13. Epilepsia. 2020. PMID: 32167590 Free article.
Sixty percent had abnormal magnetic resonance imaging (MRI) findings. Delayed myelination, thin corpus callosum, and brain atrophy were the most common. One child had gray-white matter interface indistinctness, suggesting a malformation of cortical development. ...S …
Sixty percent had abnormal magnetic resonance imaging (MRI) findings. Delayed myelination, thin corpus callosum, and brain atrophy we …
Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (HABC) Due to UFM1 Mutation in Roma Patients - Severe Early Encephalopathy with Stridor and Severe Hearing and Visual Impairment. A Single Center Experience.
Ivanov I, Pacheva I, Yordanova R, Sotkova I, Galabova F, Gaberova K, Panova M, Gheneva I, Tsvetanova T, Noneva K, Dimitrova D, Markov S, Sapundzhiev N, Bichev S, Savov A. Ivanov I, et al. CNS Neurol Disord Drug Targets. 2023;22(2):207-214. doi: 10.2174/1871527321666220221100704. CNS Neurol Disord Drug Targets. 2023. PMID: 35189806
BACKGROUND: Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a neurodegenerative disease with neurodevelopmental delay, motor, and speech regression, pronounced extrapyramidal syndrome, and sensory deficits due to TUBB4A mutation. ...Neuro …
BACKGROUND: Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a neurodegenerative disease with neurodeve …
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.
Jurecka A, Jurkiewicz E, Tylki-Szymanska A. Jurecka A, et al. Eur J Pediatr. 2012 Jan;171(1):131-8. doi: 10.1007/s00431-011-1503-9. Epub 2011 May 31. Eur J Pediatr. 2012. PMID: 21625931 Review.
Head imaging abnormalities have been reported only rarely in the scientific literature and include atrophy of the cerebral cortex, corpus callosum, cerebellar vermis, lack of myelination, delayed myelination, anomalies of the white matter, and lissencephaly. …
Head imaging abnormalities have been reported only rarely in the scientific literature and include atrophy of the cerebral …
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E. Cassandrini D, et al. J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8. J Inherit Metab Dis. 2013. PMID: 22569581
All patients rapidly developed a neonatal or early-infantile epileptic encephalopathy with intractable seizures. The long-term follow-up revealed a virtual absence of psychomotor development, progressive microcephaly, and feeding difficulties. ...In three patients f …
All patients rapidly developed a neonatal or early-infantile epileptic encephalopathy with intractable seizures. The long-term follow …
Congenital granuloprival hypoplasia of cerebellar and hippocampal cortex.
Chou SM, Mizuno Y, Rothner AD. Chou SM, et al. J Child Neurol. 1987 Oct;2(4):279-86. doi: 10.1177/088307388700200409. J Child Neurol. 1987. PMID: 3655208
The patients, both male, showed severe psychomotor retardation, microcephaly, hypotonia, athetosis, and seizures; they died at the ages of 3 7/12 years and 5 10/12 years, respectively. ...
The patients, both male, showed severe psychomotor retardation, microcephaly, hypotonia, athetosis, and seizures; they died at …