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Quoted phrase not found in phrase index: "Familial developmental dysphasia"
Page 1
A multi-disciplinary clinic for SCN8A-related epilepsy.
Schreiber JM, Tochen L, Brown M, Evans S, Ball LJ, Bumbut A, Thewamit R, Whitehead MT, Black C, Boutzoukas E, Fanto E, Suslovic W, Berl M, Hammer M, Gaillard WD. Schreiber JM, et al. Epilepsy Res. 2020 Jan;159:106261. doi: 10.1016/j.eplepsyres.2019.106261. Epub 2019 Dec 23. Epilepsy Res. 2020. PMID: 31887642
Epilepsy phenotype ranged from mild epilepsy to severe developmental and epileptic encephalopathy. Medications targeting the voltage-gated sodium channel were most often effective, while levetiracetam resulted in worsening seizures and/or developmental regression in …
Epilepsy phenotype ranged from mild epilepsy to severe developmental and epileptic encephalopathy. Medications targeting the voltage- …
Hormonal influences in developmental learning disabilities.
Tallal P. Tallal P. Psychoneuroendocrinology. 1991;16(1-3):203-11. doi: 10.1016/0306-4530(91)90079-9. Psychoneuroendocrinology. 1991. PMID: 1961840 Review.
Learning disabilities affecting language and/or reading acquisition (developmental dysphasia and dyslexia) have been studied most thoroughly. Verbal learning disabilities occur more frequently in boys than in girls, and there is a higher than expected incidence of l …
Learning disabilities affecting language and/or reading acquisition (developmental dysphasia and dyslexia) have been studied m …
Neuropathological fingerprints of survival, atrophy and language in primary progressive aphasia.
Mesulam MM, Coventry CA, Bigio EH, Sridhar J, Gill N, Fought AJ, Zhang H, Thompson CK, Geula C, Gefen T, Flanagan M, Mao Q, Weintraub S, Rogalski EJ. Mesulam MM, et al. Brain. 2022 Jun 30;145(6):2133-2148. doi: 10.1093/brain/awab410. Brain. 2022. PMID: 35441216 Free PMC article.
Primary progressive aphasia is a neurodegenerative disease that selectively impairs language without equivalent impairment of speech, memory or comportment. ...The hemispheric asymmetry of neurodegeneration and resultant language impairment in primary progressive aphasi …
Primary progressive aphasia is a neurodegenerative disease that selectively impairs language without equivalent impairment of speech, …
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC. Carvill GL, et al. Nat Genet. 2013 Sep;45(9):1073-6. doi: 10.1038/ng.2727. Epub 2013 Aug 11. Nat Genet. 2013. PMID: 23933818 Free PMC article.
Epilepsy-aphasia syndromes (EAS) are a group of rare, severe epileptic encephalopathies of unknown etiology with a characteristic electroencephalogram (EEG) pattern and developmental regression particularly affecting language. ...We identified four probands with GRI …
Epilepsy-aphasia syndromes (EAS) are a group of rare, severe epileptic encephalopathies of unknown etiology with a characteristic ele …
The syndrome of autism: a critical review.
Ornitz EM, Ritvo ER. Ornitz EM, et al. Am J Psychiatry. 1976 Jun;133(6):609-21. doi: 10.1176/ajp.133.6.609. Am J Psychiatry. 1976. PMID: 58560 Review.
Its symptoms are expressive of an underlying neuropathophysiological process that affects developmental rate; modulation of perception; language, cognitive, and intellectual development; and the ability to relate. ...
Its symptoms are expressive of an underlying neuropathophysiological process that affects developmental rate; modulation of perceptio …
Childhood autism. A review of the clinical and experimental literature.
Ornitz EM. Ornitz EM. Calif Med. 1973 Apr;118(4):21-47. Calif Med. 1973. PMID: 4120820 Free PMC article. Review.
This review of the literature on childhood autism discusses the clinical characteristics, differential diagnosis, prognosis and treatment of the autistic behavioral syndrome from a developmental perspective. It includes a discussion of the influence of prenatal and perinat …
This review of the literature on childhood autism discusses the clinical characteristics, differential diagnosis, prognosis and treatment of …
Optic disc coloboma in two nigerian siblings: Case report and review of literature.
Babalola YO, Olawoye OO, Idam PO. Babalola YO, et al. Niger J Clin Pract. 2017 Nov;20(11):1505-1509. doi: 10.4103/njcp.njcp_412_16. Niger J Clin Pract. 2017. PMID: 29303140 Review.
She had a history of childhood febrile convulsions and delayed developmental milestones. Her visual acuity could not be assessed because she had a cognitive deficit and expressive aphasia. ...
She had a history of childhood febrile convulsions and delayed developmental milestones. Her visual acuity could not be assessed beca …
Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants.
Alawadhi A, Morgan AT, Mucha BE, Scheffer IE, Myers KA. Alawadhi A, et al. Eur J Paediatr Neurol. 2021 Jan;30:25-28. doi: 10.1016/j.ejpn.2020.12.010. Epub 2020 Dec 24. Eur J Paediatr Neurol. 2021. PMID: 33387902
Heterozygous pathogenic WAC variants cause Desanto-Shinawi syndrome; affected patients have dysmorphic features, developmental impairment and behavioral abnormalities. Seizures are reported in one quarter, including tonic-clonic, absence, and febrile seizures. ...The findi …
Heterozygous pathogenic WAC variants cause Desanto-Shinawi syndrome; affected patients have dysmorphic features, developmental impair …
Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.
Morita A, Enokizono T, Ohto T, Tanaka M, Watanabe S, Takada Y, Iwama K, Mizuguchi T, Matsumoto N, Morita M, Takashima S, Shimozawa N, Takada H. Morita A, et al. Brain Dev. 2021 Mar;43(3):475-481. doi: 10.1016/j.braindev.2020.10.011. Epub 2020 Nov 21. Brain Dev. 2021. PMID: 33234382
Peroxisomal acyl-CoA oxidase (ACOX1) deficiency is a rare autosomal recessive single enzyme deficiency characterized by hypotonia, seizures, failure to thrive, developmental delay, and neurological regression starting from approximately 3 years of age. Here, we report two …
Peroxisomal acyl-CoA oxidase (ACOX1) deficiency is a rare autosomal recessive single enzyme deficiency characterized by hypotonia, seizures, …
Familial language network vulnerability in primary progressive aphasia.
Weintraub S, Rader B, Coventry C, Sridhar J, Wood J, Guillaume KA, Coppola G, Ramos EM, Bonakdarpour B, Rogalski EJ, Mesulam MM. Weintraub S, et al. Neurology. 2020 Aug 18;95(7):e847-e855. doi: 10.1212/WNL.0000000000009842. Epub 2020 Jul 22. Neurology. 2020. PMID: 32699140 Free PMC article.
OBJECTIVE: To investigate evidence of the potential role of early cortical vulnerability in the development of primary progressive aphasia (PPA). METHOD: A woman with a diagnosis of PPA and her 9 adult siblings, 7 with developmental language disabilities, underwent …
OBJECTIVE: To investigate evidence of the potential role of early cortical vulnerability in the development of primary progressive aphasi …
22 results