Results 41 to 50 of about 6,098 (248)
EFFECTIVE STOMATOLOGICAL MAINTENANCE OF PEDIATRIC PATIENT WITH LESCH–NYHAN SYNDROME
Вопросы современной педиатрии, 2014 A rare clinical case of stomatological maintenance of 11-year old boy with Lesch-Nyhan syndrome (primary x-linked hyperuricemia) is demonstrated in the article. In order to decrease trauma risk of oral cavity organs and soft tissues (due to autoagression)
N. V. Tarasova, V. G. Galonskii
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Genetics of Infantile Bilateral Striatal Necrosis
Pediatric Neurology Briefs, 2006 The gene mutation causing autosomal recessive infantile bilateral striatal necrosis (IBSN) was identified in eight consanguineous Israeli Bedouin families, in a study at Schneider Children’s Medical Center, Petah Tikva, Israel, and other centers.
J Gordon Millichap
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Felbamate in Intractable Childhood Epilepsy
Pediatric Neurology Briefs, 1994 Of 51 children with intractable seizures treated for two months with add on felbamate (50-75 mg/kg/day) at the Scottish Rite Children’s Hospital, Atlanta, GA, 51% responded with improved seizure control, 22% were unchanged, and 28% had increased seizure ...
J Gordon Millichap
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Hemiballism-hemichorea induced by ketotic hyperglycemia: case report with PET study and review of the literature [PDF]
, 2014 Hemiballism-hemichorea (HB-HC) is commonly used to describe the basal ganglion dysfunction in non-ketotic hyperglycemic elderly patients. Here we report two elderly female patients with acute onset of involuntary movements induced by hyperglycemia with ...
Huidong Tang +5 more
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Action Dystonia in Lesch-Nyhan Disease
Pediatric Neurology Briefs, 2006 The motor disorder associated with Lesch-Nyhan disease (LND) was studied in a total of 44 patients (ages 2 to 38 years) seen at Johns Hopkins Hospital, Baltimore, MD, and other US and international centers.
J Gordon Millichap
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Long-Term Efficacy and Safety of Chronic Globus Pallidus Internus Stimulation in Different Types of Primary Dystonia [PDF]
, 2009 Background: Deep brain stimulation (DBS) of the globus pallidus internus (GPi) offers a very promising therapy for medically intractable dystonia. However, little is known about the long-term benefit and safety of this procedure. We therefore performed a
Bötzel, Kai +6 more
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Focal paroxysmal kinesigenic choreoathetosis [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 1983 Three cases of paroxysmal kinesigenic choreoathetosis are described in whom unilateral attacks were focally induced, together with a case in whom bilateral attacks only occured. Treatment with phenytoin was effective in all cases. The aspects of the literature relating to focal and generalised attacks in paroxysmal kinesigenic choreoathetosis are ...
openaire +2 more sources
Epilepsy in dentatorubral–pallidoluysian atrophy: A systematic review and meta‐analysis
Epilepsia, EarlyView.Summary of key clinical and electrophysiological characteristics of DRPLA‐related epilepsy from a systematic review and meta‐analysis of 1,191 patients. DRPLA patients with epilepsy showed earlier disease onset, longer CAG repeat expansion, and a tendency toward paternal inheritance. EEG findings frequently included photoparoxysmal responses.
Toru Horinouchi +10 more
wiley +1 more source
Paroxysmal Kinesigenic Dyskinesia and Infantile Convulsions
Pediatric Neurology Briefs, 2012 A team of twelve geneticists and neurologists from centers in the Netherlands studied the phenotypes and penetrance of paroxysmal kinesigenic dyskinesia (PKD), infantile convulsion and choreoathetosis (ICCA) syndrome, and benign familial infantile ...
J Gordon Millichap
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Fahr's syndrome presenting as seizures during pregnancy – A case report
Journal of Obstetric Anaesthesia and Critical Care, 2020 Fahr's syndrome is a rare cause of seizures during pregnancy. It typically presents in the third decade of life, and it may be associated with gait instability, paroxysmal choreoathetosis, speech impairment, a neuropsychiatric disorder, myoclonus, and ...
Maddani S Sagar +3 more
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