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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures"
Page 1
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Spagnoli C, Fusco C, Percesepe A, Leuzzi V, Pisani F. Spagnoli C, et al. Int J Mol Sci. 2021 Apr 18;22(8):4202. doi: 10.3390/ijms22084202. Int J Mol Sci. 2021. PMID: 33919646 Free PMC article.
Despite expanding next generation sequencing technologies and increasing clinical interest into complex neurologic phenotypes associating epilepsies and developmental/epileptic encephalopathies (DE/EE) with movement disorders (MD), these monogenic conditions have be …
Despite expanding next generation sequencing technologies and increasing clinical interest into complex neurologic phenotypes associating ep …
Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.
Sachdeva R, Donkers SJ, Kim SY. Sachdeva R, et al. Clin Anat. 2016 Jul;29(5):561-7. doi: 10.1002/ca.22659. Epub 2015 Nov 17. Clin Anat. 2016. PMID: 26480021 Review.
Clinical characteristics universal to the disorder are well documented in the literature and include developmental delay, seizures, ataxia, altered tone, severely impaired speech and intellect, as well as an overall happy demeanor, frequent bouts of laughter, and hy …
Clinical characteristics universal to the disorder are well documented in the literature and include developmental delay, seizures …
GLUT1 deficiency syndrome--2007 update.
Klepper J, Leiendecker B. Klepper J, et al. Dev Med Child Neurol. 2007 Sep;49(9):707-16. doi: 10.1111/j.1469-8749.2007.00707.x. Dev Med Child Neurol. 2007. PMID: 17718830 Free article. Review.
Patients present with an early-onset epilepsy resistant to anticonvulsants, developmental delay, and a complex movement disorder. Hypotonic, ataxic, and dystonic features are most prominent. Speech is often severely affected. Some patients develop spasticity and sec …
Patients present with an early-onset epilepsy resistant to anticonvulsants, developmental delay, and a complex movement disorder …
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five childr …
All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hype …
Genetic and clinical variations of developmental epileptic encephalopathies.
Kaya Özçora GD, Söbü E, Gümüş U. Kaya Özçora GD, et al. Neurol Res. 2023 Mar;45(3):226-233. doi: 10.1080/01616412.2023.2170917. Epub 2023 Feb 2. Neurol Res. 2023. PMID: 36731496
Refractory epilepsy seen in 33% of cases.De-novo mutation, microcephaly and dysmorphic findings accompany resistant seizures and are associated with poor prognosis. DISCUSSION: For patients with movement disorders, developmental delay, autism, a …
Refractory epilepsy seen in 33% of cases.De-novo mutation, microcephaly and dysmorphic findings accompany resistant seizures a …
Natural course of pontocerebellar hypoplasia type 2A.
Sánchez-Albisua I, Frölich S, Barth PG, Steinlin M, Krägeloh-Mann I. Sánchez-Albisua I, et al. Orphanet J Rare Dis. 2014 May 5;9:70. doi: 10.1186/1750-1172-9-70. Orphanet J Rare Dis. 2014. PMID: 24886362 Free PMC article.
Our aim was to describe the natural course including neurological and developmental features and other aspects of care in a homogeneous group of PCH2 patients all carrying the p.A307S mutation. ...Neurologic symptoms: Choreathetosis was present in 88% (62% with pyramidal s …
Our aim was to describe the natural course including neurological and developmental features and other aspects of care in a homogeneo …
A syndrome of infantile CNS degeneration.
Holmes GL, Logan WJ. Holmes GL, et al. Am J Dis Child. 1980 Mar;134(3):262-6. doi: 10.1001/archpedi.1980.02130150020006. Am J Dis Child. 1980. PMID: 7361733
The syndrome is characterized by growth failure, ophthalmoplegia, optic atrophy, choreoathetosis, areflexia, hypotonia, dysmorphic facies, and severe mental and motor retardation. Some of the children also had microcephaly and seizures. The clinical course is …
The syndrome is characterized by growth failure, ophthalmoplegia, optic atrophy, choreoathetosis, areflexia, hypotonia, dysmorphic facies, a …
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. ...Clinical and neuroi …
All patients rapidly developed a neonatal or early-infantile epileptic encephalopathy with intractable seizures. The long-term follow …
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.
Ververi A, Islam L, Bewes B, Busby L, Sullivan C, Canham N. Ververi A, et al. Cytogenet Genome Res. 2017;152(3):132-136. doi: 10.1159/000480030. Epub 2017 Sep 13. Cytogenet Genome Res. 2017. PMID: 28898887
Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. ...The patient had developmental delay, speech impairment, a happy demeanour, microcep …
Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a …
Microlissencephaly: a heterogeneous malformation of cortical development.
Barkovich AJ, Ferriero DM, Barr RM, Gressens P, Dobyns WB, Truwit CL, Evrard P. Barkovich AJ, et al. Neuropediatrics. 1998 Jun;29(3):113-9. doi: 10.1055/s-2007-973545. Neuropediatrics. 1998. PMID: 9706619
We report the neonatal courses, early postnatal development, and neuroimaging findings of 17 patients with marked microcephaly and simplified cerebral gyral patterns, a condition that we call microlissencephaly. ...The apparent discreteness of these groups suggests …
We report the neonatal courses, early postnatal development, and neuroimaging findings of 17 patients with marked microcephaly …
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