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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities"
Page 1
Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.
Copping NA, McTighe SM, Fink KD, Silverman JL. Copping NA, et al. Neurotherapeutics. 2021 Jul;18(3):1535-1547. doi: 10.1007/s13311-021-01082-x. Epub 2021 Sep 15. Neurotherapeutics. 2021. PMID: 34528170 Free PMC article. Review.
Angelman syndrome (AS) is a rare (~1:15,000) neurodevelopmental disorder characterized by severe developmental delay and intellectual disability, impaired communication skills, and a high prevalence of seizures, sleep disturbances, ataxia, motor deficits, and …
Angelman syndrome (AS) is a rare (~1:15,000) neurodevelopmental disorder characterized by severe developmental delay and intel …
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.
De novo variants were found in 96% of tested parents (23/24). Sixty percent had abnormal magnetic resonance imaging (MRI) findings. Delayed myelination, thin corpus callosum, and brain atrophy were the most common. ...When comparing the recurrent variants to the res …
De novo variants were found in 96% of tested parents (23/24). Sixty percent had abnormal magnetic resonance imaging (MRI) findings. D …
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
Fichera M, Failla P, Saccuzzo L, Miceli M, Salvo E, Castiglia L, Galesi O, Grillo L, Calì F, Greco D, Amato C, Romano C, Elia M. Fichera M, et al. Hum Genet. 2019 Feb;138(2):187-198. doi: 10.1007/s00439-019-01972-3. Epub 2019 Jan 17. Hum Genet. 2019. PMID: 30656450 Clinical Trial.
Developmental and epileptic encephalopathies (DEEs) are genetically heterogenous conditions, often characterized by early onset, EEG interictal epileptiform abnormalities, polymorphous and drug-resistant seizures, and neurodevelopmental impairments. ...Very f …
Developmental and epileptic encephalopathies (DEEs) are genetically heterogenous conditions, often characterized by early onset, EEG interic …
Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.
Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K. Motobayashi M, et al. Am J Med Genet A. 2012 Apr;158A(4):861-8. doi: 10.1002/ajmg.a.35235. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407754 Review.
We present a 5-year-old boy with severe psychomotor developmental delay/ID, progressive microcephaly with brain atrophy, growth retardation, and several external anomalies. ...All patients whose data were available had ID, 17 patients (89%) had seizures, and …
We present a 5-year-old boy with severe psychomotor developmental delay/ID, progressive microcephaly with brain atrophy, growt …
Dyke-Davidoff-Masson syndrome: a clinicoradiological amalgam.
Sharma B, Nagpal K, Handa R, Bhana I. Sharma B, et al. BMJ Case Rep. 2014 Jun 2;2014:bcr2014204679. doi: 10.1136/bcr-2014-204679. BMJ Case Rep. 2014. PMID: 24891488 Free PMC article.
Dyke-Davidoff-Masson syndrome is a relatively rare syndrome with its typical clinical and radiological features including facial asymmetry, hemiplegia, cerebral hemiatrophy, mental retardation with calvarial thickening, hypertrophy of sinuses and elevated petrous ridge on …
Dyke-Davidoff-Masson syndrome is a relatively rare syndrome with its typical clinical and radiological features including facial asym …
Radiographic hippocampal calcifications.
Williams JP, Slimack NM, Fowler GW. Williams JP, et al. Neuroradiology. 1972 Oct;4(3):159-61. doi: 10.1007/BF00327580. Neuroradiology. 1972. PMID: 4599034 No abstract available.
West syndrome and other infantile epileptic encephalopathies--Indian hospital experience.
Kalra V, Gulati S, Pandey RM, Menon S. Kalra V, et al. Brain Dev. 2001 Nov;23(7):593-602. doi: 10.1016/s0387-7604(01)00288-1. Brain Dev. 2001. PMID: 11701262 Corrected and republished.
Psychomotor retardation was seen in 88.2%, with 16.1% having normal development at onset of spasms. Microcephaly was associated with delayed development but did not influence final seizure outcome. ...ACTH/prednisolone and antiepileptic treatment versus antiepilepti …
Psychomotor retardation was seen in 88.2%, with 16.1% having normal development at onset of spasms. Microcephaly was associated with …
Unexpected neurological sequelae following propofol anesthesia in infants: Three case reports.
Meyer P, Langlois C, Soëte S, Leydet J, Echenne B, Rivier F, Bonafé A, Roubertie A. Meyer P, et al. Brain Dev. 2010 Nov;32(10):872-8. doi: 10.1016/j.braindev.2009.11.011. Epub 2010 Jan 8. Brain Dev. 2010. PMID: 20060673
Propofol was used for induction and maintenance of anesthesia in all cases. The three patients developed convulsions with similar clinical characteristics (cluster of recurrent clinical and subclinical seizures) between the 23th and 30th hours following anest …
Propofol was used for induction and maintenance of anesthesia in all cases. The three patients developed convulsions with similar clinica …
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.
de Koning TJ, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van der Knaap MS. de Koning TJ, et al. Neuropediatrics. 2000 Dec;31(6):287-92. doi: 10.1055/s-2000-12944. Neuropediatrics. 2000. PMID: 11508546
White matter abnormalities are a feature of many inborn errors of metabolism and magnetic resonance imaging (MRI) of the brain has become an important tool in the diagnostic work-up of these disorders. Recently, patients were reported with a potentially treat …
White matter abnormalities are a feature of many inborn errors of metabolism and magnetic resonance imaging (MRI) of the brain …
Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.
Blau N, Bonafé L, Krägeloh-Mann I, Thöny B, Kierat L, Häusler M, Ramaekers V. Blau N, et al. Neurology. 2003 Sep 9;61(5):642-7. doi: 10.1212/01.wnl.0000082726.08631.e7. Neurology. 2003. PMID: 12963755
OBJECTIVE: To describe three unrelated children with a distinctive variant of Aicardi-Goutieres syndrome (AGS) characterized by microcephaly, severe mental and motor retardation, dyskinesia or spasticity, and occasional seizures. ...CONCLUSIONS: Intrathecal overprod …
OBJECTIVE: To describe three unrelated children with a distinctive variant of Aicardi-Goutieres syndrome (AGS) characterized by microceph …
14 results