List of works - Daniele Frattini

A case of infantile neuroaxonal dystrophy of neonatal onset

scientific article published on 27 May 2014

A novel KCNQ3 gene mutation in a child with infantile convulsions and partial epilepsy with centrotemporal spikes

article

Acute and chronic corticosteroid treatment of ten patients with paralytic form of Sydenham's chorea

scientific article published on 23 December 2011

CMV-associated axonal sensory-motor Guillain-Barré syndrome in a child: Case report and review of the literature

scientific article

Cerebellar atrophy in a child with hereditary methemoglobinemia type II.

scientific article

Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient

scientific article published on 9 April 2010

Congenital pes cavus in a Charcot-Marie-tooth disease type 1A newborn.

scientific article published in June 2009

Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report

scientific article

Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy

scientific article published on August 2010

Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients

scientific article published in October 2013

Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy

article

Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update.

scientific article

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation

scientific article published on 6 September 2009

Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.

scientific article published on 21 November 2016

Isolated vitamin E deficiency mimicking distal hereditary motor neuropathy in a 13-year-old boy.

scientific article

KCNQ2 encephalopathy: A case due to a de novo deletion

scientific article

Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability?

scientific article

Multiple sulfatase deficiency with neonatal manifestation

scientific article

New Niemann-Pick type C1 gene mutation associated with very severe disease course and marked early cerebellar vermis atrophy.

scientific article published on 30 October 2012

New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene

scientific article

Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation

scientific article published on 24 September 2013

Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome

scientific article published on 19 July 2010

Steroids efficacy in the acute management of seizure clusters in one case of PCDH19 female epilepsy

scientific article published on 8 September 2015

The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review

scientific article published on January 2011

The ring 14 syndrome: Clinical and molecular definition

article published in 2009

Transient basal ganglia and thalamic involvement following Mycoplasma pneumoniae infection associated with antiganglioside antibodies

scientific article published on 19 March 2010

Very Early Onset and Severe Complicated Phenotype Caused by a New Spastic Paraplegia 3A Gene Mutation

article

List of works by Daniele Frattini

A case of infantile neuroaxonal dystrophy of neonatal onset

A novel KCNQ3 gene mutation in a child with infantile convulsions and partial epilepsy with centrotemporal spikes

Acute and chronic corticosteroid treatment of ten patients with paralytic form of Sydenham's chorea

CMV-associated axonal sensory-motor Guillain-Barré syndrome in a child: Case report and review of the literature

Cerebellar atrophy in a child with hereditary methemoglobinemia type II.

Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient

Congenital pes cavus in a Charcot-Marie-tooth disease type 1A newborn.

Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report

Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy

Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients

Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy

Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update.

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation

Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.

Isolated vitamin E deficiency mimicking distal hereditary motor neuropathy in a 13-year-old boy.

KCNQ2 encephalopathy: A case due to a de novo deletion

Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability?

Multiple sulfatase deficiency with neonatal manifestation

New Niemann-Pick type C1 gene mutation associated with very severe disease course and marked early cerebellar vermis atrophy.

New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene

Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation

Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome

Steroids efficacy in the acute management of seizure clusters in one case of PCDH19 female epilepsy

The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review

The ring 14 syndrome: Clinical and molecular definition

Transient basal ganglia and thalamic involvement following Mycoplasma pneumoniae infection associated with antiganglioside antibodies

Very Early Onset and Severe Complicated Phenotype Caused by a New Spastic Paraplegia 3A Gene Mutation