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

Neurology, 2006-02, Vol.66 (4), p.606-607

2006

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

Neurology, 2004-10, Vol.63 (8), p.1539-1540

2004

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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.1129-1131

2003

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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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Surgery removes EEG abnormalities in patients with Chiari type I malformation and poor CSF flow

Clinical neurophysiology, 2006-05, Vol.117 (5), p.959-963

2006

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The Syndrome of Inv Dup (15): Clinical, Electroencephalographic, and Imaging Findings

Journal of child neurology, 2000-06, Vol.15 (6), p.380-385

2000

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Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)

Journal of medical genetics, 2015-11, Vol.52 (11), p.738-748

2015

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Epilepsy in Rett syndrome: Clinical and genetic features

Epilepsy & behavior, 2010-11, Vol.19 (3), p.296-300

2010

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Late‐onset Lennox–Gastaut syndrome in a patient with 15q11.2–q13.1 duplication

American journal of medical genetics. Part A, 2009-05, Vol.149A (5), p.1033-1035

2009

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Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome

Clinical neurophysiology, 2008-11, Vol.119 (11), p.2455-2458

2008

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EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome

Clinical neurophysiology, 2010-05, Vol.121 (5), p.652-657

2010

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Focal cortical dysplasia type 1b as a cause of severe epilepsy with multiple independent spike foci

Brain & development (Tokyo. 1979), 2008-01, Vol.30 (1), p.53-58

2008

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New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: The future challenge

Brain & development (Tokyo. 1979), 2008-08, Vol.30 (7), p.461-468

2008

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A Randomized Trial of Oral Betamethasone to Reduce Ataxia Symptoms in Ataxia Telangiectasia online video

Movement disorders, 2012, Vol.27 (10), p.1312-1316

2012

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Betamethasone and improvement of neurological symptoms in ataxia-telangiectasia

Archives of neurology (Chicago), 2006-10, Vol.63 (10), p.1479

2006

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Severe myoclonic epilepsy of infancy: Seizure reduction during adjunctive eslicarbazepine in two cases

Epilepsy & behavior case reports, 2015-01, Vol.4 (C), p.38-40

2015

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Hypohidrotic Ectodermal Dysplasia and Intrathoracic Neuroblastoma

Pediatric dermatology, 2007-05, Vol.24 (3), p.267-271

2007

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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

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

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

Atypical BECTS and homocystinuria

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

Surgery removes EEG abnormalities in patients with Chiari type I malformation and poor CSF flow

The Syndrome of Inv Dup (15): Clinical, Electroencephalographic, and Imaging Findings

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)

Epilepsy in Rett syndrome: Clinical and genetic features

Late‐onset Lennox–Gastaut syndrome in a patient with 15q11.2–q13.1 duplication

Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome

EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome

Focal cortical dysplasia type 1b as a cause of severe epilepsy with multiple independent spike foci

New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: The future challenge

A Randomized Trial of Oral Betamethasone to Reduce Ataxia Symptoms in Ataxia Telangiectasia online video

Betamethasone and improvement of neurological symptoms in ataxia-telangiectasia

Severe myoclonic epilepsy of infancy: Seizure reduction during adjunctive eslicarbazepine in two cases

Hypohidrotic Ectodermal Dysplasia and Intrathoracic Neuroblastoma

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