Search results for "Myoclonic"

The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy

2019

BACKGROUND: Dentatorubral-pallidoluysian atrophy is a hereditary neurodegenerative disease prevalently reported in Japan but rare in Caucasians. The objective of this study was to reconstruct the pedigree of Italian dentatorubral-pallidoluysian atrophy familial cases describing their clinical features. METHODS: We investigated 6 apparently unrelated dentatorubral-pallidoluysian atrophy families comprising a total of 51 affected individuals: 13 patients were clinically examined, and for 38 patients clinical data were collected from clinical sources. The dentatorubral-pallidoluysian atrophy diagnosis was genetically confirmed in 18 patients. Genealogical data from historical archives were ana…

Prognostic Challenges of SCN1A Genetic Mutations: Report on Two Children with Mild Features

2016

Mutations in the gene encoding the α-1 subunit of the voltage-gated sodium channel (SCN1A) are associated with variable but usually severe clinical course, both for the epileptic seizures and the cognitive impairment. The purpose of the present study was to retrospectively review two patients affected by seizures and two different types of SCN1A gene mutations (microdeletion and point mutation). The children (a 4-year-old girl and a 3-year-old boy) were affected by generalized tonic–clonic seizures and myoclonic jerks plus unilateral seizures, respectively. Genetic analyses showed, in the girl, the presence of a 4 MB deletion involving SCN1A and four other genes, and a point mutation in the…

A novel GABRB3 variant in Dravet syndrome: Case report and literature review

2020

Abstract Background Mutations in GABRB3 have been identified in subjects with different types of epilepsy and epileptic syndromes, including West syndrome (WS), Dravet syndrome (DS), Lennox‐Gastaut syndrome (LGS), myoclonic‐atonic epilepsy (MAE), and others. Methods and results We herewith report on a girl affected by DS, who has been followed from infancy to the current age of 18 years. Next‐generation sequencing (NGS)‐based genetic testing for multigene analysis of neurodevelopmental disorders identified two likely de novo pathogenic mutations, a missense variant in GABRB3 gene (c.842 C>T; p.Thr281IIe) and a nonsense variant found in BBS4 gene (c.883 C>T; p.Arg295Ter). Conclusion A likely…

Poor prognosis despite successful treatment of postanoxic generalized myoclonus.

2010

Generalized myoclonus (GM) after cardiopulmonary resuscitation (CPR) implies a poor prognosis.1 Postanoxic GM is usually classified as one type of convulsive status epilepticus,2 which is also reflected by terms like myoclonic status,3 myoclonic status epilepticus,4 or postanoxic status epilepticus.5 Antiepileptic drugs commonly used in the treatment of status epilepticus such as phenytoin or valproate, however, are ineffective in the majority of these patients.3,4,6 Reports of single patients7 and our own observations6 indicated that propofol may control GM. This prompted us to use propofol as standard treatment of postanoxic GM in 60 consecutive comatose survivors of CPR. ### Level of evi…

Dentatorubral-pallidoluysian atrophy: haplotype of Asian origin in 2 Italian families.

2011

Panniculitis due to potassium bromide.

1998

Potassium bromide again is well known to be surprisingly effective in patients with severe myoclonic epilepsy in infants (SME). Rare side effects on the skin reappeared, such as the febrile nodular panniculitis (Weber-Christian syndrome). In 1993 we described the first three cases of necrotizing panniculitis and introduced the term 'halogen panniculitis'. It is a systemic disease with crops of subcutaneous nodules, fever, elevated sedimentation rate, hepatosplenomegalia, and abdominal pain. Later severe necrosis of the skin and adipose tissue may happen with deep ulcerations. History and course of five cases, described in this paper, suggest either an allergy or toxic reason. Histologic pic…

Spontaneous Epileptic Manifestations in a DCX Knockdown Model of Human Double Cortex

2010

Previous reports indicate that in utero knockdown of doublecortin (DCX) results in the genesis of a subcortical heterotopia reminiscent of the doublecortex observed in female patients with DCX mutations. It has also been shown that these rats display an increased susceptibility to convulsant agents and increased cortical neurons excitability; but it is presently unknown whether they display spontaneous seizures. Furthermore, the link between the size of heterotopia and the clinical manifestation remained to be elucidated. Using video--electrocorticogram recordings, we now report that DCX knockdown induces frequent spontaneous seizures commonly associated with myoclonic jerks in adult rats. …

Lack of SCN1A Mutations in Familial Febrile Seizures

2002

Summary:  Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected indiv…

Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome.

2013

No abstract available

Giant subcutaneous lipomatosis in Myoclonic Epilepsy with Ragged Red Fibers syndrome: The first literature report of “laparoscopic” excision

2020

Background MERRF (Myoclonic Epilepsy with Ragged Red Fibers) is a rare multisystem clinical disorder due to a pathogenic variant of the mitochondrial DNA. Rare symptoms of MERRF include multiple systemic lipomatosis with symmetric uncapsulated lipomas occurs generally on the posterior cervical region and upper back. Methods We report the clinical case of a 46 years-old Caucasian man with MERRF syndrome who presented with MSL on the right cervical region. We decided to perform a mini-invasive approach using laparoscopic instruments. We performed a 10-mm incision about 5 cm under the mass and conducted a blunt dissection of the subcutaneous plane. Then we positioned a 10-mm port and started C…