Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
Simonati, Alessandro
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. [electronic resource] - Pediatric neurology Apr 2009 - 271-6 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0887-8994
10.1016/j.pediatrneurol.2008.10.018 doi
Adolescent
Age of Onset
Alleles
Brain--pathology
Child
Child Behavior Disorders--etiology
Child Development
Child, Preschool
Disease Progression
Electrodiagnosis
Electroencephalography
Female
Gene Deletion
Humans
Infant
Magnetic Resonance Imaging
Male
Membrane Proteins--genetics
Mutation--physiology
Neuronal Ceroid-Lipofuscinoses--genetics
Reverse Transcriptase Polymerase Chain Reaction
Seizures--etiology
Sleep--physiology
Speech Disorders--etiology
Thiolester Hydrolases
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. [electronic resource] - Pediatric neurology Apr 2009 - 271-6 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0887-8994
10.1016/j.pediatrneurol.2008.10.018 doi
Adolescent
Age of Onset
Alleles
Brain--pathology
Child
Child Behavior Disorders--etiology
Child Development
Child, Preschool
Disease Progression
Electrodiagnosis
Electroencephalography
Female
Gene Deletion
Humans
Infant
Magnetic Resonance Imaging
Male
Membrane Proteins--genetics
Mutation--physiology
Neuronal Ceroid-Lipofuscinoses--genetics
Reverse Transcriptase Polymerase Chain Reaction
Seizures--etiology
Sleep--physiology
Speech Disorders--etiology
Thiolester Hydrolases