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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with seizures and brain 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 …
Neuropsychological and neuropathological observations of a long-studied case of memory impairment.
Squire LR, Kim S, Frascino JC, Annese J, Bennett J, Insausti R, Amaral DG. Squire LR, et al. Proc Natl Acad Sci U S A. 2020 Nov 24;117(47):29883-29893. doi: 10.1073/pnas.2018960117. Epub 2020 Nov 9. Proc Natl Acad Sci U S A. 2020. PMID: 33168712 Free PMC article.
.), who developed memory impairment after a cardiac arrest at age 39. A.B. was a clinical psychologist who, although unable to return to work, was an active participant in our neuropsychological studies for 24 y. ...The amygdala demonstrated substantial neuronal loss, part …
.), who developed memory impairment after a cardiac arrest at age 39. A.B. was a clinical psychologist who, although unable to return …
Case report of subdural hematoma in a patient with Sturge-Weber syndrome and literature review: questions and implications for therapy.
Lopez J, Yeom KW, Comi A, Van Haren K. Lopez J, et al. J Child Neurol. 2013 May;28(5):672-5. doi: 10.1177/0883073812449514. Epub 2012 Jul 17. J Child Neurol. 2013. PMID: 22805242 Review.
Sturge-Weber syndrome is a neurocutaneous disorder associated with vascular abnormalities in the skin, eye, and brain leading to both acute and chronic cerebral hypoperfusion and, in some affected children, brain injury. Aspirin can reduce stroke-like events …
Sturge-Weber syndrome is a neurocutaneous disorder associated with vascular abnormalities in the skin, eye, and brain leading …
Two cases of DYNC1H1 mutations with intractable epilepsy.
Matsumoto A, Kojima K, Miya F, Miyauchi A, Watanabe K, Iwamoto S, Kawai K, Kato M, Takahashi Y, Yamagata T. Matsumoto A, et al. Brain Dev. 2021 Sep;43(8):857-862. doi: 10.1016/j.braindev.2021.05.005. Epub 2021 Jun 3. Brain Dev. 2021. PMID: 34092403
EEG showed slow waves in right central areas during myoclonic seizures. Brain MRI revealed pachygyria, predominantly in the occipital lobe. After callosal transection her atonic seizures disappeared, but FIAS remained. Patient 2 was diagnosed with autism spec …
EEG showed slow waves in right central areas during myoclonic seizures. Brain MRI revealed pachygyria, predominantly in the oc …
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. In this study, w …
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.
Although the cardinal feature is intellectual disability (ID), neurodevelopmental features of the syndrome have not been systematically reviewed. We present a 5-year-old boy with severe psychomotor developmental delay/ID, progressive microcephaly with brain atrop …
Although the cardinal feature is intellectual disability (ID), neurodevelopmental features of the syndrome have not been systematical …
Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency.
Acosta MT, Munasinghe J, Pearl PL, Gupta M, Finegersh A, Gibson KM, Theodore WH. Acosta MT, et al. J Child Neurol. 2010 Dec;25(12):1457-61. doi: 10.1177/0883073810368137. Epub 2010 May 5. J Child Neurol. 2010. PMID: 20445195 Free PMC article.
Human succinic semialdehyde dehydrogenase deficiency, an autosomal recessive disorder of gamma-aminobutyric acid (GABA) catabolism, was modeled by a murine model sharing the phenotype of ataxia and seizures. ...Cerebellar volume loss is present in the murine diso …
Human succinic semialdehyde dehydrogenase deficiency, an autosomal recessive disorder of gamma-aminobutyric acid (GABA) catabolism, w …
Long-term outcome in aqueductal stenosis.
Villani R, Tomei G, Gaini SM, Grimoldi N, Spagnoli D, Bello L. Villani R, et al. Childs Nerv Syst. 1995 Mar;11(3):180-5. doi: 10.1007/BF00570262. Childs Nerv Syst. 1995. PMID: 7773981
Epilepsy was observed in 13% of the cases. Incidence of recurrent and generalized seizures paralleled neurodevelopmental outcome (5% in normal, 16% in moderately disabled and 50% in severely disabled patients). ...In patients with normal mental status and motor abno …
Epilepsy was observed in 13% of the cases. Incidence of recurrent and generalized seizures paralleled neurodevelopmental outco …
Multiple Endocrine Deficiencies are Common in Hypoparathyroidism-Retardation-Dysmorphism Syndrome.
David O, Barash G, Agur R, Loewenthal N, Carmon L, Shaki D, Walker D, Novoa R, Haim A, Hershkovitz E. David O, et al. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e907-e916. doi: 10.1210/clinem/dgaa807. J Clin Endocrinol Metab. 2021. PMID: 33150438 Clinical Trial.
The main magnetic resonance imaging findings were small anterior pituitary gland, small hippocampus, brain atrophy, thin corpus callosum, Chiari type I malformation, and septo-optic dysplasia. ...
The main magnetic resonance imaging findings were small anterior pituitary gland, small hippocampus, brain atrophy, thin corpu …
Psychosis in a Patient with Davidoff-Dyke-Masson Syndrome.
Hegde D, Guru N, Krishna Prasad M, Raghuraj U, Rao S. Hegde D, et al. Clin Schizophr Relat Psychoses. 2018 Spring;12(1):9-11. doi: 10.3371/CSRP.HEGU.022015. Epub 2015 Feb 24. Clin Schizophr Relat Psychoses. 2018. PMID: 25711507
CONCLUSIONS: Right-sided hemiatrophy may be an addition to the list of neuro-developmental and structural cerebral anomalies associated with psychotic disorders including schizophrenia....
CONCLUSIONS: Right-sided hemiatrophy may be an addition to the list of neuro-developmental and structural cerebral anomalies associated with …
23 results