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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with seizures and brain atrophy"
Page 1
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, Bertini E, Valente EM, Battini R, Ferrari A, Romaniello R, Zucca C, Borgatti R, Uccella S, Severino M, Striano P, Pistorio A, Prato G, De Grandis E, Nobili L, Pisciotta L. Giacomini T, et al. Eur J Paediatr Neurol. 2021 Mar;31:61-69. doi: 10.1016/j.ejpn.2021.02.006. Epub 2021 Feb 19. Eur J Paediatr Neurol. 2021. PMID: 33640666
OBJECTIVE: CASK pathogenic variants are associated with variable features, as intellectual disability, optic atrophy, brainstem/cerebellar hypoplasia, and epileptic encephalopathy. ...Seventeen out of 34 patients (50%) suffered from epileptic seizures, including spa …
OBJECTIVE: CASK pathogenic variants are associated with variable features, as intellectual disability, optic atrophy, brainstem/cereb …
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 …
Clinical characteristics and neuroimaging findings of seven patients with Dyke Davidoff Masson syndrome.
Wang B, Jiang W, Yan W, Tian J, Xu J, Li Y, Zhao Y, Dai Y, Cheng G, Hou G. Wang B, et al. BMC Neurol. 2021 May 31;21(1):213. doi: 10.1186/s12883-021-02242-4. BMC Neurol. 2021. PMID: 34053436 Free PMC article.
Schizophrenia with apathy, and epileptic schizoid psychosis were observed in cases 4 and 5 respectively. Case 6 had behavioral disorders, hyperactivity, tic disorder, mental retardation, anxiety, catatonic symptoms and suicidal tendency. ...The midline structure has …
Schizophrenia with apathy, and epileptic schizoid psychosis were observed in cases 4 and 5 respectively. Case 6 had behavioral disorders …
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Trivisano M, Ferretti A, Bebin E, Huh L, Lesca G, Siekierska A, Takeguchi R, Carneiro M, De Palma L, Guella I, Haginoya K, Shi RM, Kikuchi A, Kobayashi T, Jung J, Lagae L, Milh M, Mathieu ML, Minassian BA, Novelli A, Pietrafusa N, Takeshita E, Tartaglia M, Terracciano A, Thompson ML, Cooper GM, Vigevano F, Villard L, Villeneuve N, Buyse GM, Demos M, Scheffer IE, Specchio N. Trivisano M, et al. Epilepsia. 2020 Jul;61(7):e71-e78. doi: 10.1111/epi.16582. Epub 2020 Jul 9. Epilepsia. 2020. PMID: 32645220 Free PMC article.
Tonic seizures were the most frequent seizure type. Twelve patients (70.6%) had drug-resistant epilepsy, 14 (82.3%) intellectual disability, and 11 (64.7%) behavioral disturbances. Brain magnetic resonance imaging (MRI) showed mild cerebral and/or cerebellar …
Tonic seizures were the most frequent seizure type. Twelve patients (70.6%) had drug-resistant epilepsy, 14 (82.3%) intellectu …
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y, Yoshihashi H, Uehara T, Miyama S, Kosaki K, Takenouchi T. Sakaguchi Y, et al. Am J Med Genet A. 2021 Mar;185(3):884-888. doi: 10.1002/ajmg.a.62020. Epub 2020 Dec 27. Am J Med Genet A. 2021. PMID: 33369122 Review.
Clinically, coloboma has been described as a feature in a WDR37-related disorder and a PACS1-related disorder (Schuurs-Hoeijmakers syndrome), but not in a PACS2-related disorder. Our review of the phenotypes of three human disorders caused by WDR37, PA …
Clinically, coloboma has been described as a feature in a WDR37-related disorder and a PACS1-related disorder (Schuurs-Hoeijma …
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N. Chelban V, et al. Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. Epub 2019 Oct 17. Eur J Neurol. 2020. PMID: 31509304 Free PMC article.
BACKGROUND AND PURPOSE: Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. ...The phenotypic and neuroimaging expression in NKX6-2 is described and it is shown th …
BACKGROUND AND PURPOSE: Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of pheno …
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 …
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Alharby E, Faqeih EA, Saleh M, Alameer S, Almuntashri M, Pastore A, Samman MA, Alnawfal AM, Hashem M, Zaytuni D, Alharbi G, Almannai M, Alasmari A, Mahmoud AA, Alwadei AH, Jad L, AlOtaibi A, Al-Hakami F, Eyaid W, Alkuraya FS, Alfadhel M, Peake RWA, Almontashiri NAM. Alharby E, et al. Genet Med. 2020 Dec;22(12):2071-2080. doi: 10.1038/s41436-020-0919-x. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741967 Free article.
RESULTS: The major phenotypes included congenital microcephaly (100%), facial dysmorphism (100%), global developmental delay (100%), brain abnormalities (100%), spasticity (86%), and infantile-onset seizures (93%). ...
RESULTS: The major phenotypes included congenital microcephaly (100%), facial dysmorphism (100%), global developmental delay (100%), brai …
EEG and MRI findings and their relation with intellectual disability in pervasive developmental disorders.
Unal O, Ozcan O, Oner O, Akcakin M, Aysev A, Deda G. Unal O, et al. World J Pediatr. 2009 Aug;5(3):196-200. doi: 10.1007/s12519-009-0037-y. Epub 2009 Aug 20. World J Pediatr. 2009. PMID: 19693463 Free PMC article.
BACKGROUND: The diagnostic category pervasive developmental disorders (PDDs) refer to a group of five disorders: autism, Rett syndrome, childhood disintegrative disorder, Asperger syndrome, and pervasive developmental disorder not otherwise specified ( …
BACKGROUND: The diagnostic category pervasive developmental disorders (PDDs) refer to a group of five disorders: autism, Rett …
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.
Abdelmoumen I, Jimenez S, Valencia I, Melvin J, Legido A, Diaz-Diaz MM, Griffith C, Massingham LJ, Yelton M, Rodríguez-Hernández J, Schnur RE, Walsh LE, Cristancho AG, Bergqvist CA, McWalter K, Mathieson I, Belbin GM, Kenny EE, Ortiz-Gonzalez XR, Schneider MC. Abdelmoumen I, et al. J Child Neurol. 2021 Feb;36(2):93-98. doi: 10.1177/0883073820953001. Epub 2020 Sep 15. J Child Neurol. 2021. PMID: 32928027 Free PMC article.
Six patients demonstrated progressive volume loss and/or cerebellar atrophy on brain magnetic resonance imaging (MRI). CONCLUSIONS: We describe the largest cohort to date of patients with epileptic encephalopathy. ...Children homozygous for the FRRS1L (p.Gly246del) …
Six patients demonstrated progressive volume loss and/or cerebellar atrophy on brain magnetic resonance imaging (MRI). CONCLUS …
61 results