Skip to main content

Table 1 Summary of PIGN, PIGA, and PIGT patients

From: Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)

PIGN (NM_012327)
 Patient IDPatient 1Patient 2Patient 3Patient 4Patient 5Patient 6Patient 7 
 Current age/Sex2 yrs./M4 yrs. 9 mo/M3 yrs. 6 mo/M2 yrs. 8 mo/F1 yrs. 7mo/M2 yrs./M2 yrs. 5 mo/F 
 Gestation, wkfull termfull termfull term36wfull termfull termfull term 
 Birth historynormalnormalnormalrupture of membranesnormalnormalnormal 
 Seizure-onset age3 mo7 mo1 yr4 mo9 mo10 mo8 mo 
 Seizure typeFSFS, PGTCS, MSGTCSFS; AAFS, AAMS, AAFS 
 Seizure prognosisintractableseizure-free at 3 yrs. with AEDsintractableintractableintractableintractableintractable 
 Ever used pyridoxine/effect+/−+/−+/n.a.+/n.a. 
 Used AEDsLEVOXC, VPA, LEVLEVVPA, TPM, LEVVPAVPA, LEVVPA, TPM, OXC 
 Fever with seizure breakthrough+++++++ 
 Developmental delaynormal motor, severe intellectualseverenormal motor, severe intellectualsevereseveremoderatemoderate 
Dysmorphism        
 Facialn.a.arched palatalnasal bridge collapse, ocular hypertelorism, nasal tip round bluntocular hypertelorism, nasal bridge collapse, arched palatalbinocular esotropia; nystagmushigh foreheadnasal bridge collapse 
 Other organsn.a.perianal abscess, mild liver enlargementumbilical hernia, increased foot wrinklesbilateral Achilles tendon contracture, small hands and feet 
 Hypotonian.a.+++++ 
 Serum ALPn.a.normalnormalelevatedn.a.normalnormal 
 Initial interictal EEGnormalleft frontal and central regions dischargesnormalmultifocal dischargesnormalmultifocal dischargesnormal 
 Brain MRIenlarged ventricles, enlarged subarachnoid spacenormalenlarged subarachnoid spaceenlarged ventricles, thin corpus callosum, enlarged subarachnoid spaceenlarged subarachnoid space, slightly delayed myelin sheathnormalenlarged ventricles, cerebellar vermis dysplasia 
PIGA (NM_002641)
 Patient IDPatient 8Patient 9Patient 10Patient 11Patient 12Patient 13Patient 14Patient 15
 Current age/Sex3 yrs. 10 mo/M3 yrs. 7 mo/M6 yrs./M6 yrs./M7 yrs./M4 yrs./M5 yrs./M2 yrs. 9 mo/M
 Gestation, wkfull termfull termfull term36 + 1wn.a.full termn.a.full term
 Birth historynormalnormalnormalanoxiameconium-stained amniotic fluidnormalnormalnormal
 Seizure-onset age2 mo10 mo1 mo 28d6 mo7 mo4 mo6 mo6 mo
 Seizure typeFSFS, PGTCS, SEFS, SEFS, SEFS, MS, absence seizureFS, ESFS, GTCSFS
 Seizure prognosisintractableseizure-free at 1.3 yrs. with AEDsintractableintractableintractableintractableseizure-free at 2 yrs. with AEDsintractable
 Ever used pyridoxine/effect+/−+/−+/−
 Used AEDsTPM, VPA, OXCVPA, LEV, TPM, OXCVPA, LEV, TPMVPA, LEV, TPMVPA, TPM, LEVTPM, VPA, LEVVPA, LEV, TPMTPM, OXC, VPA, LTG, CLB
 Fever with seizure breakthrough++++++
 Developmental delayseveresevereseveresevereseverenormal motor, severe intellectualseveresevere
Dysmorphism        
 Facialocular hypertelorismocular hypertelorism, nasal bridge collapse, arched palatalarched palataln.a.
 Other organsfoot deformity, umbilical herniacongenital megacoloncongenital megacolon, cafe-au-lait-spotn.a.
 Hypotonia++++n.a.n.a.
 Serum ALPn.a.n.a.elevatednormaln.a.elevatedn.a.n.a.
 Initial interictal EEGdiffuse slow waves mixed with predominantly posterior dischargesdiffuse slow waves mixed with multifocal dischargesdiffuse slow waves mixed with bilateral occipital dischargesdiffuse slow waves mixed with multifocal dischargesdiffuse slow waves mixed with frontal dischargehypsarrhythmiadiffuse slow waves mixed with left frontal dischargediffuse slow waves mixed with multifocal discharges
 Brain MRIwhite-matter immaturity, enlarged subarachnoid spaceenlarged ventricleenlarged subarachnoid spaceenlarged subarachnoid space, deeper brain sulcusnormalenlarged ventricles, enlarged subarachnoid spacenormaln.a.
PIGT (NM_015937)      
 Patient IDPatient 16Patient 17      
 Current age/Sex13 yrs. 4 mo/M1 yr/M      
 Gestation, wkfull termfull term      
 Birth historynormalnormal      
 Seizure-onset age3 yrs.4 mo      
 Seizure typeFSES, MS      
 Seizure prognosisintractableintractable      
 Ever used pyridoxine/effect      
 Used AEDsVPA, LEVLEV, VPA, OXC      
 Fever with seizure breakthrough+      
 Developmental delaymildsevere      
 Dysmorphism        
 Facialnasal bridge collapse, arched palatal, dysplastic ears      
 Other organscafe-au-lait-spot      
 Hypotonia+      
 Serum ALPn.a.normal      
 Initial interictal EEGleft anterior and middle temporal dischargesmultifocal discharges      
 Brain MRInormalenlarged subarachnoid space      
  1. y year, mo month, d day, F femal, M male, FS focal seizure, PGTCS partial secondarily generalized tonic-clonic seizures, MS myoclonic seizure, GTCS generalized tonic-clonic seizure, AA atypical absence, SE status epilepticus, ES epileptic spasm, AEDs antiepileptic drugs, LEV levetiracetam, OXC oxcarbazepine, VPA valproic acid, TPM topiramate, LTG lamotrigine, CLB clobazam, n.a. not available, EEG electroencephalogram, MRI magnetic resonance imaging