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Novel PTEN mutations in neurodevelopmental disorders and macrocephaly

Clinical genetics, 2009-02, Vol.75 (2), p.195-198

2009

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Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

Brain & development (Tokyo. 1979), 2010-01, Vol.32 (1), p.17-24

2010

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Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies

Clinical genetics, 2009-06, Vol.75 (6), p.579-581

2009

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Neurological outcome following isolated 10–12 mm fetal ventriculomegaly

Archives of disease in childhood. Fetal and neonatal edition, 2009-07, Vol.94 (4), p.F311-F312

2009

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SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy

Neurology, 2006-02, Vol.66 (4), p.606

2006

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Delayed response of seizures with vagus nerve stimulation in Lennox-Gastaut syndrome

Neurology, 2004-10, Vol.63 (8), p.1539

2004

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The FBN1 (R2726W) mutation is not fully penetrant

Annals of human genetics, 2004-11, Vol.68 (6), p.633-638

2004

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Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects

European journal of neurology, 2006-08, Vol.13 (8), p.842-851

2006

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Occipital intermittent rhythmic delta activity only following eye closure in atypical CNS Salmonellosis

Clinical neurophysiology, 2005-08, Vol.116 (8), p.1768-1770

2005

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Atypical BECTS and homocystinuria

Neurology, 2003-10, Vol.61 (8), p.1129

2003

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Operative Results without Invasive Monitoring in Patients with Frontal Lobe Epileptogenic Lesions

Epilepsia (Copenhagen), 2001-10, Vol.42 (10), p.1308-1315

2001

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Neuronal ceroid lipofuscinoses: clinical and EEG findings in a large study of Italian cases

Neurological sciences, 2000-01, Vol.21 (3 Suppl), p.S75-S81

2000

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Growth hormone secretion in Prader-Willi syndrome

Journal of endocrinological investigation, 1998-07, Vol.21 (7), p.418-422

1998

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Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia

American journal of medical genetics, 2004-06, Vol.127A (2), p.212-216

2004

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Myoclonic encephalopathy in the CDKL5 gene mutation

Clinical neurophysiology, 2006, Vol.117 (1), p.223-227

2006

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Segregation Analysis in Typical Absence Epilepsy

Journal of child neurology, 1998-02, Vol.13 (2), p.89-93

1998

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Vagus nerve stimulation for drug-resistant epilepsy in children and young adults

Brain & development (Tokyo. 1979), 2004-04, Vol.26 (3), p.158-163

2004

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Comment on the ACTH treatment of the West syndrome

Brain & development (Tokyo. 1979), 1996-11, Vol.18 (6), p.469-470

1996

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Results from the commissioning of the n_TOF spallation neutron source at CERN

Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment, 2003-11, Vol.513 (3), p.524-537

2003

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Combined Treatment With Vigabatrin and Topiramate in West Syndrome

Journal of child neurology, 2004-05, Vol.19 (5), p.385-386

2004

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Attention‐deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog–Scott syndrome due to a novel FGD1 gene mutation (R408Q)

American journal of medical genetics. Part A, 2005-05, Vol.135A (1), p.99-102

2005

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EEG, PET, SPET, and MRI in intractable childhood epilepsies : possible surgical correlations

Child's nervous system, 1995-12, Vol.11 (12), p.672-678

1995

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FOXG1 Is Responsible for the Congenital Variant of Rett Rett Syndrome

American journal of human genetics, 2008-07, Vol.83 (1), p.89-93

2008

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Lamotrigine in typical absence epilepsy

Brain & development (Tokyo. 1979), 1999-07, Vol.21 (5), p.303-306

1999

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Hemimegalencephaly in Tuberous Sclerosis Complex

Journal of child neurology, 2002-09, Vol.17 (9), p.677-680

2002

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Novel PTEN mutations in neurodevelopmental disorders and macrocephaly

Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies

Neurological outcome following isolated 10–12 mm fetal ventriculomegaly

SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy

Delayed response of seizures with vagus nerve stimulation in Lennox-Gastaut syndrome

The FBN1 (R2726W) mutation is not fully penetrant

Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects

Occipital intermittent rhythmic delta activity only following eye closure in atypical CNS Salmonellosis

Atypical BECTS and homocystinuria

Operative Results without Invasive Monitoring in Patients with Frontal Lobe Epileptogenic Lesions

Neuronal ceroid lipofuscinoses: clinical and EEG findings in a large study of Italian cases

Growth hormone secretion in Prader-Willi syndrome

Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia

Myoclonic encephalopathy in the CDKL5 gene mutation

Segregation Analysis in Typical Absence Epilepsy

Vagus nerve stimulation for drug-resistant epilepsy in children and young adults

Comment on the ACTH treatment of the West syndrome

Results from the commissioning of the n_TOF spallation neutron source at CERN

Combined Treatment With Vigabatrin and Topiramate in West Syndrome

Attention‐deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog–Scott syndrome due to a novel FGD1 gene mutation (R408Q)

EEG, PET, SPET, and MRI in intractable childhood epilepsies : possible surgical correlations

FOXG1 Is Responsible for the Congenital Variant of Rett Rett Syndrome

Lamotrigine in typical absence epilepsy

Hemimegalencephaly in Tuberous Sclerosis Complex

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