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CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients
Eur J Paediatr Neurol. 2021 May 26;33:75-85. doi: 10.1016/j.ejpn.2021.05.010. Online ahead of print.ABSTRACTCACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly documented. We studied 18 patients (10 males) carrying de novo or inherited CACNA1A mutations, with median age of 2,5 years at epilepsy onset. Eight mutations were novel. Two variants known leading to gain of function (GOF) were found in 5 patients. Five other patients had non-sense variants leading to loss of function ...
Source: European Journal of Paediatric Neurology - June 8, 2021 Category: Neurology Authors: Marie Le Roux Magalie Barth Sophie Gueden Patrick Desbordes de Cepoy Alec Aeby Catheline Vilain Edouard Hirsch Anne de Saint Martin Vincent des Portes Ga ëtan Lesca Audrey Riquet Laurence Chaton Nathalie Villeneuve Laurent Villard Claude Cances Luc Valto Source Type: research

Misdiagnosis of lamotrigine toxicity as posterior circulation transient ischemic attack or stroke.
CONCLUSION: Emergency departments will frequently call a stroke alert for patients taking LTG and presenting with symptoms consistent with LTG toxicity, particularly in seniors at greater risk of stroke. This adds not only expense but also radiation and contrast exposure from computed tomography (CT) studies. We recommend that a rapid LTG assay be made available and always ordered in patients receiving LTG, avoiding the considerable expense of an unnecessary stroke evaluation. PMID: 32652284 [PubMed - as supplied by publisher]
Source: Epilepsy and Behaviour - July 7, 2020 Category: Neurology Authors: Ramey P, Osborn M, Kirshner H, Abou-Khalil B Tags: Epilepsy Behav Source Type: research

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T > C Mutation in the Mitochondrial MTND3 Gene
Conclusion The m.10191T>C mutation in the mtDNA of the complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction through impaired enzyme catalysis rather than impaired stability or assembly, causing a broad clinical spectrum of disorders (26). Patients with the m.10191T>C mutation are rare. In the present study, we report on a family of patients with the extremely rare adult-onset Leigh-like syndrome with the m.10191T>C mutation. Including the two patients from our reported family, the m.10191T...
Source: Frontiers in Neurology - April 17, 2019 Category: Neurology Source Type: research

Paroxysmal Dysarthria and Ataxia after Treatment of Brainstem Encephalitis (P6.053)
CONCLUSIONS: Paroxysmal dysarthria and ataxia is most often recognized as a complication of multiple sclerosis, but it can occur in other neurologic diseases with midbrain lesions near or involving the red nucleus. Effective treatments include carbamazepine, acetazolamide, lamotrigine, and phenytoin.Study Supported by: N/A.Disclosure: Dr. Klaas has nothing to disclose. Dr. Boes has nothing to disclose. Dr. Aksamit has nothing to disclose.
Source: Neurology - April 9, 2014 Category: Neurology Authors: Klaas, J., Boes, C., Aksamit, A. Tags: Movement Disorders: Miscellaneous Ataxias Source Type: research