Publications
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Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.,
, Human molecular genetics, 2015 Jun 29, (2015)
Abstract
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.,
, Journal of medical genetics, 2015 Jun, Volume 52, Issue 6, p.405-12, (2015)
Abstract
Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy.,
, PloS one, 2015, Volume 10, Issue 7, p.e0130883, (2015)
Abstract
Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis.,
, PloS one, 2015, Volume 10, Issue 7, p.e0131635, (2015)
Abstract
Periventricular nodular heterotopia in Smith-Magenis syndrome.,
, American journal of medical genetics. Part A, 2014 Dec, Volume 164A, Issue 12, p.3142-7, (2014)
Abstract
Effect of delta-opioid receptor agonist deltorphin on circulating concentrations of luteinizing hormone and follicle stimulating hormone in healthy fertile women.,
, Human reproduction (Oxford, England), 1998 May, Volume 13, Issue 5, p.1159-62, (1998)
Abstract
Lamotrigine and seizure aggravation in severe myoclonic epilepsy.,
, Epilepsia, 1998 May, Volume 39, Issue 5, p.508-12, (1998)
Abstract
Paroxysmal tonic upgaze of childhood with ataxia: a benign transient dystonia with autosomal dominant inheritance.,
, Brain & development, 1998 Mar, Volume 20, Issue 2, p.116-8, (1998)
Abstract
Myoclonic absence-like seizures and chromosome abnormality syndromes.,
, Epilepsia, 1998 Jun, Volume 39, Issue 6, p.660-3, (1998)
Abstract
Reversible pseudoatrophy of the brain and mental deterioration associated with valproate treatment.,
, Epilepsia, 1998 Jan, Volume 39, Issue 1, p.27-32, (1998)
Abstract
Angelman syndrome: correlations between epilepsy phenotypes and genotypes.,
, Annals of neurology, 1998 Apr, Volume 43, Issue 4, p.485-93, (1998)
Abstract
Cortical reflex myoclonus in Rett syndrome.,
, Annals of neurology, 1998 Apr, Volume 43, Issue 4, p.472-9, (1998)
Abstract
Antiepileptic drug-induced worsening of seizures in children.,
, Epilepsia, 1998, Volume 39 Suppl 3, p.S2-10, (1998)
Abstract
Induction of partial seizures by visual stimulation. Clinical and electroencephalographic features and evoked potential studies.,
, Advances in neurology, 1998, Volume 75, p.159-78, (1998)
Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.,
, Neurology, 1997 Oct, Volume 49, Issue 4, p.1042-7, (1997)
Abstract
Early-onset benign occipital seizure susceptibility syndrome.,
, Epilepsia, 1997 Mar, Volume 38, Issue 3, p.285-93, (1997)
Abstract
The influence of dosage, age, and comedication on steady state plasma lamotrigine concentrations in epileptic children: a prospective study with preliminary assessment of correlations with clinical response.,
, Therapeutic drug monitoring, 1997 Jun, Volume 19, Issue 3, p.252-60, (1997)
Abstract
Adolescent onset of idiopathic photosensitive occipital epilepsy after remission of benign rolandic epilepsy.,
, Epilepsia, 1997 Jul, Volume 38, Issue 7, p.777-81, (1997)
Abstract
Delayed appearance of interictal EEG abnormalities in early onset childhood epilepsy with occipital paroxysms.,
, Brain & development, 1997 Jul, Volume 19, Issue 5, p.343-6, (1997)
Abstract
Bilateral parasagittal parietooccipital polymicrogyria and epilepsy.,
, Annals of neurology, 1997 Jan, Volume 41, Issue 1, p.65-73, (1997)
Abstract